Canonical Allele Identifier: CA2739272840
Community Standard Title: NM_001242957.3(MAK):c.1466-20_1466-18del
Gene: MAK HGNC NCBI
TMEM14B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10775479_10775481del , CM000668.2:g.10775479_10775481del GRCh38
NC_000006.11:g.10775712_10775714del , CM000668.1:g.10775712_10775714del GRCh37
NC_000006.10:g.10883698_10883700del NCBI36
NG_030040.1:g.68077_68079del

Transcript Alleles

HGVS Amino-acid Change
NM_001242957.3:c.1466-20_1466-18del (MAK) MANE Select NP_001229886.1:n.1466-20_1466-18del
ENST00000354489.7:c.1466-20_1466-18del (MAK) MANE Select ENSP00000346484.3:n.1466-20_1466-18del
NM_001242385.1:c.1466-20_1466-18del (MAK) NP_001229314.1:n.1466-20_1466-18del
NM_001242385.2:c.1466-20_1466-18del (MAK) NP_001229314.1:n.1466-20_1466-18del
NM_001242957.1:c.1466-20_1466-18del (MAK) NP_001229886.1:n.1466-20_1466-18del
NM_001242957.2:c.1466-20_1466-18del (MAK) NP_001229886.1:n.1466-20_1466-18del
NM_001377262.1:c.1364-20_1364-18del (MAK) NP_001364191.1:n.1364-20_1364-18del
NM_005906.4:c.1466-20_1466-18del (MAK) NP_005897.1:n.1466-20_1466-18del
NM_005906.5:c.1466-20_1466-18del (MAK) NP_005897.1:n.1466-20_1466-18del
NM_005906.6:c.1466-20_1466-18del (MAK) NP_005897.1:n.1466-20_1466-18del
NR_134935.1:n.1853-20_1853-18del (MAK)
NR_134935.2:n.1837-20_1837-18del (MAK)
NR_134936.1:n.2009-20_2009-18del (MAK)
NR_134936.2:n.2065-20_2065-18del (MAK)
ENST00000313243.6:c.1466-20_1466-18del (MAK) ENSP00000313021.2:n.1466-20_1466-18del
ENST00000354489.6:c.1466-20_1466-18del (MAK) ENSP00000346484.3:n.1466-20_1466-18del
ENST00000460341.5:c.*120+5275_*120+5277del (TMEM14B) ENSP00000417095.1:n.*120+5275_*120+5277del
ENST00000463100.5:c.*120+5275_*120+5277del (TMEM14B) ENSP00000419806.1:n.*120+5275_*120+5277del
ENST00000463448.5:c.*120+5275_*120+5277del (TMEM14B) ENSP00000419208.1:n.*120+5275_*120+5277del
ENST00000467229.1:c.284+5275_284+5277del (TMEM14B)
ENST00000473166.5:c.*120+5275_*120+5277del (TMEM14B) ENSP00000417416.1:n.*120+5275_*120+5277del
ENST00000473807.5:c.*120+5275_*120+5277del (TMEM14B) ENSP00000419156.1:n.*120+5275_*120+5277del
ENST00000474039.5:c.1466-20_1466-18del (MAK) ENSP00000476067.1:n.1466-20_1466-18del
ENST00000478732.1:c.264+5275_264+5277del (TMEM14B) ENSP00000418927.1:n.264+5275_264+5277del
ENST00000480294.1:c.100+25781_100+25783del ENSP00000417929.1:n.100+25781_100+25783del
ENST00000489137.1:n.128+5275_128+5277del (TMEM14B)
ENST00000536370.5:c.1466-20_1466-18del (MAK) ENSP00000442221.2:n.1466-20_1466-18del
ENST00000536370.6:c.1466-20_1466-18del (MAK) ENSP00000442221.2:n.1466-20_1466-18del
ENST00000538030.2:c.*197-20_*197-18del (MAK) ENSP00000442250.1:n.*197-20_*197-18del
ENST00000538030.3:c.*197-20_*197-18del (MAK) ENSP00000442250.1:n.*197-20_*197-18del
ENST00000675026.1:c.*132-20_*132-18del (MAK) ENSP00000502542.1:n.*132-20_*132-18del
ENST00000676116.1:c.1364-20_1364-18del (MAK) ENSP00000502045.1:n.1364-20_1364-18del
XM_011514619.1:c.1466-20_1466-18del (MAK) XP_011512921.1:n.1466-20_1466-18del
XM_011514619.2:c.1466-20_1466-18del (MAK) XP_011512921.1:n.1466-20_1466-18del
XM_011514620.1:c.1466-20_1466-18del (MAK) XP_011512922.1:n.1466-20_1466-18del
XM_011514620.2:c.1466-20_1466-18del (MAK) XP_011512922.1:n.1466-20_1466-18del
XM_011514621.1:c.1409-20_1409-18del (MAK) XP_011512923.1:n.1409-20_1409-18del
XM_011514621.2:c.1409-20_1409-18del (MAK) XP_011512923.1:n.1409-20_1409-18del
XM_011514622.1:c.1466-20_1466-18del (MAK) XP_011512924.1:n.1466-20_1466-18del
XM_011514622.3:c.1466-20_1466-18del (MAK) XP_011512924.1:n.1466-20_1466-18del
XM_011514623.1:c.899-20_899-18del (MAK) XP_011512925.1:n.899-20_899-18del
XM_011514624.1:c.686-20_686-18del (MAK) XP_011512926.1:n.686-20_686-18del
XM_011514624.2:c.686-20_686-18del (MAK) XP_011512926.1:n.686-20_686-18del
XM_017010863.2:c.1466-20_1466-18del (MAK) XP_016866352.1:n.1466-20_1466-18del
XM_017010864.2:c.1466-20_1466-18del (MAK) XP_016866353.1:n.1466-20_1466-18del
XM_017010865.1:c.1409-20_1409-18del (MAK) XP_016866354.1:n.1409-20_1409-18del
XM_024446443.1:c.899-20_899-18del (MAK) XP_024302211.1:n.899-20_899-18del
XR_002956283.1:n.1908-20_1908-18del (MAK)
XR_926215.1:n.1798-20_1798-18del (MAK)
XR_926215.3:n.1736-20_1736-18del (MAK)
XR_926216.1:n.2006-20_2006-18del (MAK)
XR_926217.1:n.1981-20_1981-18del (MAK)
XR_926219.1:n.1903-20_1903-18del (MAK)
XR_926220.1:n.1625-20_1625-18del (MAK)
XR_926220.3:n.1563-20_1563-18del (MAK)
XR_926221.1:n.1797-20_1797-18del (MAK)
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