Canonical Allele Identifier: CA2625846325

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279138-C-CAGGCGCAGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279138_77279139insAGGCGCAGAAGG , CM000676.2:g.77279138_77279139insAGGCGCAGAAGG	GRCh38
NC_000014.8:g.77745481_77745482insAGGCGCAGAAGG , CM000676.1:g.77745481_77745482insAGGCGCAGAAGG	GRCh37
NC_000014.7:g.76815234_76815235insAGGCGCAGAAGG	NCBI36
NG_008897.1:g.46744_46745insCCTTCTGCGCCT , LRG_844:g.46744_46745insCCTTCTGCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-270_817-269insCCTTCTGCGCCT
ENST00000556394.2:c.1433-270_1433-269insCCTTCTGCGCCT	ENSP00000451967.2:n.1433-270_1433-269insCCTTCTGCGCCT
ENST00000682128.1:c.193-270_193-269insCCTTCTGCGCCT	ENSP00000506976.1:n.193-270_193-269insCCTTCTGCGCCT
ENST00000682247.1:c.1892-281_1892-280insCCTTCTGCGCCT	ENSP00000507213.1:n.1892-281_1892-280insCCTTCTGCGCCT
ENST00000682395.1:n.2356-270_2356-269insCCTTCTGCGCCT
ENST00000682459.1:n.1595-270_1595-269insCCTTCTGCGCCT
ENST00000682467.1:c.1892-631_1892-630insCCTTCTGCGCCT	ENSP00000508062.1:n.1892-631_1892-630insCCTTCTGCGCCT
ENST00000682615.1:n.246-270_246-269insCCTTCTGCGCCT
ENST00000682795.1:c.2039-270_2039-269insCCTTCTGCGCCT	ENSP00000507574.1:n.2039-270_2039-269insCCTTCTGCGCCT
ENST00000682895.1:n.1608-270_1608-269insCCTTCTGCGCCT
ENST00000682955.1:n.1466-270_1466-269insCCTTCTGCGCCT
ENST00000683095.1:c.298-270_298-269insCCTTCTGCGCCT	ENSP00000508040.1:n.298-270_298-269insCCTTCTGCGCCT
ENST00000683188.1:c.2153-270_2153-269insCCTTCTGCGCCT
ENST00000683380.1:n.1556-270_1556-269insCCTTCTGCGCCT
ENST00000683828.1:c.1601-270_1601-269insCCTTCTGCGCCT
ENST00000683907.1:c.157-270_157-269insCCTTCTGCGCCT	ENSP00000507754.1:n.157-270_157-269insCCTTCTGCGCCT
ENST00000684172.1:c.268-270_268-269insCCTTCTGCGCCT	ENSP00000508391.1:n.268-270_268-269insCCTTCTGCGCCT
ENST00000684259.1:n.3389_3390insCCTTCTGCGCCT
ENST00000684538.1:n.1001_1002insCCTTCTGCGCCT
ENST00000684549.1:n.1443-270_1443-269insCCTTCTGCGCCT
ENST00000261534.9:c.1892-270_1892-269insCCTTCTGCGCCT MANE Select	ENSP00000261534.4:n.1892-270_1892-269insCCTTCTGCGCCT
ENST00000261534.8:c.1892-270_1892-269insCCTTCTGCGCCT	ENSP00000261534.4:n.1892-270_1892-269insCCTTCTGCGCCT
ENST00000452340.7:n.2598_2599insCCTTCTGCGCCT
ENST00000554767.5:n.2678-270_2678-269insCCTTCTGCGCCT
ENST00000555134.1:n.817-270_817-269insCCTTCTGCGCCT
ENST00000555710.1:c.161-178_161-177insCCTTCTGCGCCT	ENSP00000451730.1:n.161-178_161-177insCCTTCTGCGCCT
ENST00000556171.1:c.484-270_484-269insCCTTCTGCGCCT
ENST00000556394.1:c.88-631_88-630insCCTTCTGCGCCT
ENST00000602717.5:c.107-270_107-269insCCTTCTGCGCCT	ENSP00000487704.1:n.107-270_107-269insCCTTCTGCGCCT
NM_013382.5:c.1892-270_1892-269insCCTTCTGCGCCT , LRG_844t1:c.1892-270_1892-269insCCTTCTGCGCCT	NP_037514.2:n.1892-270_1892-269insCCTTCTGCGCCT
XM_011536675.1:c.2081-270_2081-269insCCTTCTGCGCCT	XP_011534977.1:n.2081-270_2081-269insCCTTCTGCGCCT
XM_011536676.1:c.1748-270_1748-269insCCTTCTGCGCCT	XP_011534978.1:n.1748-270_1748-269insCCTTCTGCGCCT
XM_011536677.1:c.1622-270_1622-269insCCTTCTGCGCCT	XP_011534979.1:n.1622-270_1622-269insCCTTCTGCGCCT
XM_011536678.1:c.*359_*360insCCTTCTGCGCCT	XP_011534980.1:n.*359_*360insCCTTCTGCGCCT
XM_011536679.1:c.1175-270_1175-269insCCTTCTGCGCCT	XP_011534981.1:n.1175-270_1175-269insCCTTCTGCGCCT
XR_943416.1:n.2145-270_2145-269insCCTTCTGCGCCT
XM_011536675.2:c.2081-270_2081-269insCCTTCTGCGCCT	XP_011534977.1:n.2081-270_2081-269insCCTTCTGCGCCT
XM_011536676.2:c.1748-270_1748-269insCCTTCTGCGCCT	XP_011534978.1:n.1748-270_1748-269insCCTTCTGCGCCT
XM_011536677.3:c.1622-270_1622-269insCCTTCTGCGCCT	XP_011534979.1:n.1622-270_1622-269insCCTTCTGCGCCT
XR_001750279.1:n.2178-270_2178-269insCCTTCTGCGCCT
XR_001750282.1:n.2831-270_2831-269insCCTTCTGCGCCT
XR_943416.3:n.2143-270_2143-269insCCTTCTGCGCCT
NM_013382.6:c.1892-270_1892-269insCCTTCTGCGCCT	NP_037514.2:n.1892-270_1892-269insCCTTCTGCGCCT
NM_013382.7:c.1892-270_1892-269insCCTTCTGCGCCT MANE Select	NP_037514.2:n.1892-270_1892-269insCCTTCTGCGCCT