Canonical Allele Identifier: CA530411827
Community Standard Title: NM_001303052.2(MYT1L):c.2775-61_2775-60del
Gene: MYT1L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1840904_1840905del , CM000664.2:g.1840904_1840905del GRCh38
NC_000002.11:g.1844676_1844677del , CM000664.1:g.1844676_1844677del GRCh37
NC_000002.10:g.1823683_1823684del NCBI36
NG_051313.1:g.495485_495486del

Transcript Alleles

HGVS Amino-acid Change
NM_001303052.2:c.2775-61_2775-60del MANE Select NP_001289981.1:n.2775-61_2775-60del
ENST00000647738.2:c.2775-61_2775-60del MANE Select ENSP00000497479.2:n.2775-61_2775-60del
NM_001303052.1:c.2775-61_2775-60del NP_001289981.1:n.2775-61_2775-60del
NM_001329844.1:c.2775-61_2775-60del NP_001316773.1:n.2775-61_2775-60del
NM_001329844.2:c.2775-61_2775-60del NP_001316773.1:n.2775-61_2775-60del
NM_001329845.1:c.2775-61_2775-60del NP_001316774.1:n.2775-61_2775-60del
NM_001329846.1:c.2769-61_2769-60del NP_001316775.1:n.2769-61_2769-60del
NM_001329846.2:c.2769-61_2769-60del NP_001316775.1:n.2769-61_2769-60del
NM_001329846.3:c.2769-61_2769-60del NP_001316775.1:n.2769-61_2769-60del
NM_001329847.1:c.2769-61_2769-60del NP_001316776.1:n.2769-61_2769-60del
NM_001329847.2:c.2769-61_2769-60del NP_001316776.1:n.2769-61_2769-60del
NM_001329848.1:c.2769-61_2769-60del NP_001316777.1:n.2769-61_2769-60del
NM_001329849.1:c.2769-61_2769-60del NP_001316778.1:n.2769-61_2769-60del
NM_001329849.2:c.2769-61_2769-60del NP_001316778.1:n.2769-61_2769-60del
NM_001329849.3:c.2769-61_2769-60del NP_001316778.1:n.2769-61_2769-60del
NM_001329851.1:c.2775-61_2775-60del NP_001316780.1:n.2775-61_2775-60del
NM_001329851.2:c.2775-61_2775-60del NP_001316780.1:n.2775-61_2775-60del
NM_001329851.3:c.2775-61_2775-60del NP_001316780.1:n.2775-61_2775-60del
NM_001329852.1:c.2769-61_2769-60del NP_001316781.1:n.2769-61_2769-60del
NM_001329852.2:c.2769-61_2769-60del NP_001316781.1:n.2769-61_2769-60del
NM_001329852.3:c.2769-61_2769-60del NP_001316781.1:n.2769-61_2769-60del
NM_015025.3:c.2769-61_2769-60del NP_055840.2:n.2769-61_2769-60del
NM_015025.4:c.2769-61_2769-60del NP_055840.2:n.2769-61_2769-60del
ENST00000399157.7:c.-238-61_-238-60del ENSP00000382111.3:n.-238-61_-238-60del
ENST00000399157.8:c.-238-61_-238-60del ENSP00000382111.4:n.-238-61_-238-60del
ENST00000399161.6:c.2775-61_2775-60del ENSP00000382114.2:n.2775-61_2775-60del
ENST00000399161.7:c.2769-61_2769-60del ENSP00000382114.3:n.2769-61_2769-60del
ENST00000399161.8:c.2769-61_2769-60del ENSP00000382114.3:n.2769-61_2769-60del
ENST00000407844.5:c.-238-61_-238-60del ENSP00000384219.1:n.-238-61_-238-60del
ENST00000407844.6:c.-238-61_-238-60del ENSP00000384219.1:n.-238-61_-238-60del
ENST00000428368.6:c.2769-61_2769-60del ENSP00000396103.2:n.2769-61_2769-60del
ENST00000428368.7:c.2775-61_2775-60del ENSP00000396103.3:n.2775-61_2775-60del
ENST00000471668.1:n.2004_2005del
ENST00000644820.1:c.2838-61_2838-60del ENSP00000496210.1:n.2838-61_2838-60del
ENST00000647618.1:c.2712-61_2712-60del ENSP00000497024.1:n.2712-61_2712-60del
ENST00000647687.1:c.1530-61_1530-60del
ENST00000647687.2:c.2224-61_2224-60del
ENST00000647694.1:c.2775-61_2775-60del ENSP00000497722.1:n.2775-61_2775-60del
ENST00000647755.1:c.2769-61_2769-60del ENSP00000496922.1:n.2769-61_2769-60del
ENST00000647848.1:c.-238-61_-238-60del ENSP00000496980.1:n.-238-61_-238-60del
ENST00000648299.1:n.1580-61_1580-60del
ENST00000648316.1:c.2769-61_2769-60del ENSP00000497870.1:n.2769-61_2769-60del
ENST00000648318.1:c.2769-61_2769-60del ENSP00000496831.1:n.2769-61_2769-60del
ENST00000648339.1:c.2775-61_2775-60del ENSP00000497493.1:n.2775-61_2775-60del
ENST00000648366.1:c.-238-61_-238-60del ENSP00000496948.1:n.-238-61_-238-60del
ENST00000648430.1:c.2270-61_2270-60del
ENST00000648430.2:c.2270-61_2270-60del
ENST00000648465.1:n.1147-61_1147-60del
ENST00000648478.1:n.1273-61_1273-60del
ENST00000648627.1:c.1797-61_1797-60del ENSP00000497309.1:n.1797-61_1797-60del
ENST00000648643.1:n.1272-61_1272-60del
ENST00000648665.1:c.2769-61_2769-60del ENSP00000497115.1:n.2769-61_2769-60del
ENST00000648665.2:c.2769-61_2769-60del ENSP00000497115.1:n.2769-61_2769-60del
ENST00000648753.1:c.1990-61_1990-60del
ENST00000648753.2:c.2270-61_2270-60del
ENST00000648885.1:c.568-61_568-60del
ENST00000648885.2:c.833-61_833-60del
ENST00000648913.1:n.865-61_865-60del
ENST00000648928.1:c.2769-61_2769-60del ENSP00000497017.1:n.2769-61_2769-60del
ENST00000648931.1:c.1570-61_1570-60del
ENST00000648931.2:c.2264-61_2264-60del
ENST00000648933.1:c.1797-61_1797-60del ENSP00000497838.1:n.1797-61_1797-60del
ENST00000648943.1:c.2032-61_2032-60del
ENST00000648943.2:c.2327-61_2327-60del
ENST00000649092.1:c.439-61_439-60del
ENST00000649092.2:c.743-61_743-60del
ENST00000649207.1:c.2769-61_2769-60del ENSP00000496986.1:n.2769-61_2769-60del
ENST00000649663.1:c.2775-61_2775-60del ENSP00000497273.1:n.2775-61_2775-60del
ENST00000649840.1:c.1221-61_1221-60del ENSP00000496783.1:n.1221-61_1221-60del
ENST00000649840.2:c.1223-61_1223-60del
ENST00000650399.1:c.1152-61_1152-60del ENSP00000497900.1:n.1152-61_1152-60del
ENST00000650399.2:c.1248-61_1248-60del ENSP00000497900.2:n.1248-61_1248-60del
ENST00000650485.1:c.2769-61_2769-60del ENSP00000497068.1:n.2769-61_2769-60del
ENST00000650485.2:c.2769-61_2769-60del ENSP00000497068.1:n.2769-61_2769-60del
ENST00000650560.1:c.2772-61_2772-60del ENSP00000497816.1:n.2772-61_2772-60del
ENST00000650589.1:c.-238-61_-238-60del ENSP00000497501.1:n.-238-61_-238-60del
ENST00000650589.2:c.-238-61_-238-60del ENSP00000497501.2:n.-238-61_-238-60del
XM_011510318.1:c.2838-61_2838-60del XP_011508620.1:n.2838-61_2838-60del
XM_011510319.1:c.2838-61_2838-60del XP_011508621.1:n.2838-61_2838-60del
XM_011510320.1:c.2838-61_2838-60del XP_011508622.1:n.2838-61_2838-60del
XM_011510320.3:c.2838-61_2838-60del XP_011508622.1:n.2838-61_2838-60del
XM_011510321.1:c.2838-61_2838-60del XP_011508623.1:n.2838-61_2838-60del
XM_011510321.2:c.2838-61_2838-60del XP_011508623.1:n.2838-61_2838-60del
XM_011510322.1:c.2838-61_2838-60del XP_011508624.1:n.2838-61_2838-60del
XM_011510322.2:c.2838-61_2838-60del XP_011508624.1:n.2838-61_2838-60del
XM_011510323.1:c.2838-61_2838-60del XP_011508625.1:n.2838-61_2838-60del
XM_011510324.1:c.2838-61_2838-60del XP_011508626.1:n.2838-61_2838-60del
XM_011510324.2:c.2838-61_2838-60del XP_011508626.1:n.2838-61_2838-60del
XM_011510325.1:c.2832-61_2832-60del XP_011508627.1:n.2832-61_2832-60del
XM_011510326.1:c.2775-61_2775-60del XP_011508628.1:n.2775-61_2775-60del
XM_011510327.1:c.2838-61_2838-60del XP_011508629.1:n.2838-61_2838-60del
XM_011510328.1:c.2838-61_2838-60del XP_011508630.1:n.2838-61_2838-60del
XM_011510328.2:c.2838-61_2838-60del XP_011508630.1:n.2838-61_2838-60del
XM_011510329.1:c.2544-61_2544-60del XP_011508631.1:n.2544-61_2544-60del
XM_011510330.1:c.2838-61_2838-60del XP_011508632.1:n.2838-61_2838-60del
XM_017003604.1:c.2838-61_2838-60del XP_016859093.1:n.2838-61_2838-60del
XM_017003605.1:c.2838-61_2838-60del XP_016859094.1:n.2838-61_2838-60del
XM_017003606.1:c.2832-61_2832-60del XP_016859095.1:n.2832-61_2832-60del
XM_017003607.2:c.2832-61_2832-60del XP_016859096.1:n.2832-61_2832-60del
XM_017003608.1:c.2838-61_2838-60del XP_016859097.1:n.2838-61_2838-60del
XM_017003611.1:c.2769-61_2769-60del XP_016859100.1:n.2769-61_2769-60del
XM_017003612.1:c.2769-61_2769-60del XP_016859101.1:n.2769-61_2769-60del
XM_017003615.1:c.2775-61_2775-60del XP_016859104.1:n.2775-61_2775-60del
XM_017003616.1:c.2775-61_2775-60del XP_016859105.1:n.2775-61_2775-60del
XM_017003618.1:c.2769-61_2769-60del XP_016859107.1:n.2769-61_2769-60del
XM_017003620.1:c.2544-61_2544-60del XP_016859109.1:n.2544-61_2544-60del
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