Canonical Allele Identifier: CA2524009425

Gene: POMT2

Linked Data

• gnomAD v3: 14-77278585-AGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCC-A
• gnomAD v4: 14-77278585-AGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278600_77278650del , CM000676.2:g.77278600_77278650del	GRCh38
NC_000014.8:g.77744943_77744993del , CM000676.1:g.77744943_77744993del	GRCh37
NC_000014.7:g.76814696_76814746del	NCBI36
NG_008897.1:g.47247_47297del , LRG_844:g.47247_47297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+93_958-78del
ENST00000556394.2:c.1573+93_1574-78del	ENSP00000451967.2:n.1573+93_1574-78del
ENST00000682247.1:c.2021+93_2022-78del	ENSP00000507213.1:n.2021+93_2022-78del
ENST00000682395.1:n.2496+93_2497-78del
ENST00000682459.1:n.1735+93_1736-78del
ENST00000682467.1:c.1892-128_1892-78del	ENSP00000508062.1:n.1892-128_1892-78del
ENST00000682795.1:c.2179+93_2180-78del	ENSP00000507574.1:n.2179+93_2180-78del
ENST00000682895.1:n.1748+93_1749-78del
ENST00000682955.1:n.1606+93_1607-78del
ENST00000683188.1:c.2293+93_2294-78del
ENST00000683380.1:n.1696+93_1697-78del
ENST00000683907.1:c.297+93_298-78del	ENSP00000507754.1:n.297+93_298-78del
ENST00000684259.1:n.3799+93_3800-78del
ENST00000684538.1:n.1411+93_1412-78del
ENST00000684549.1:n.1583+93_1584-78del
ENST00000261534.9:c.2032+93_2033-78del MANE Select	ENSP00000261534.4:n.2032+93_2033-78del
ENST00000261534.8:c.2032+93_2033-78del	ENSP00000261534.4:n.2032+93_2033-78del
ENST00000452340.7:n.3008+93_3009-78del
ENST00000554767.5:n.2818+93_2819-78del
ENST00000555710.1:c.393+93_394-78del	ENSP00000451730.1:n.393+93_394-78del
ENST00000556394.1:c.88-128_88-78del
ENST00000556446.1:n.333+93_334-78del
ENST00000602717.5:c.247+93_248-78del	ENSP00000487704.1:n.247+93_248-78del
NM_013382.5:c.2032+93_2033-78del , LRG_844t1:c.2032+93_2033-78del	NP_037514.2:n.2032+93_2033-78del
XM_011536675.1:c.2221+93_2222-78del	XP_011534977.1:n.2221+93_2222-78del
XM_011536676.1:c.1888+93_1889-78del	XP_011534978.1:n.1888+93_1889-78del
XM_011536677.1:c.1762+93_1763-78del	XP_011534979.1:n.1762+93_1763-78del
XM_011536679.1:c.1315+93_1316-78del	XP_011534981.1:n.1315+93_1316-78del
XR_943416.1:n.2285+93_2286-78del
XM_011536675.2:c.2221+93_2222-78del	XP_011534977.1:n.2221+93_2222-78del
XM_011536676.2:c.1888+93_1889-78del	XP_011534978.1:n.1888+93_1889-78del
XM_011536677.3:c.1762+93_1763-78del	XP_011534979.1:n.1762+93_1763-78del
XR_001750279.1:n.2318+93_2319-78del
XR_001750282.1:n.2971+93_2972-78del
XR_943416.3:n.2283+93_2284-78del
NM_013382.6:c.2032+93_2033-78del	NP_037514.2:n.2032+93_2033-78del
NM_013382.7:c.2032+93_2033-78del MANE Select	NP_037514.2:n.2032+93_2033-78del