Canonical Allele Identifier: CA2625845789

Gene: POMT2

Linked Data

• gnomAD v4: 14-77301369-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301371_77301373del , CM000676.2:g.77301371_77301373del	GRCh38
NC_000014.8:g.77767714_77767716del , CM000676.1:g.77767714_77767716del	GRCh37
NC_000014.7:g.76837467_76837469del	NCBI36
NG_008897.1:g.24511_24513del , LRG_844:g.24511_24513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-123_110-121del	ENSP00000508202.1:n.110-123_110-121del
ENST00000556394.2:c.358-1811_358-1809del	ENSP00000451967.2:n.358-1811_358-1809del
ENST00000556880.6:n.681-123_681-121del
ENST00000682247.1:c.657-123_657-121del	ENSP00000507213.1:n.657-123_657-121del
ENST00000682382.1:c.496-2601_496-2599del
ENST00000682395.1:n.386-123_386-121del
ENST00000682459.1:n.321-123_321-121del
ENST00000682467.1:c.657-123_657-121del	ENSP00000508062.1:n.657-123_657-121del
ENST00000682795.1:c.657-123_657-121del	ENSP00000507574.1:n.657-123_657-121del
ENST00000682895.1:n.373-123_373-121del
ENST00000682955.1:n.212-2601_212-2599del
ENST00000683188.1:c.343-1811_343-1809del
ENST00000683300.1:c.109+3320_109+3322del	ENSP00000507630.1:n.109+3320_109+3322del
ENST00000683328.1:c.109+3320_109+3322del	ENSP00000508096.1:n.109+3320_109+3322del
ENST00000683380.1:n.321-123_321-121del
ENST00000683551.1:c.109+1463_109+1465del
ENST00000683828.1:c.525+1463_525+1465del
ENST00000684259.1:n.508-123_508-121del
ENST00000684549.1:n.368-1811_368-1809del
ENST00000261534.9:c.657-123_657-121del MANE Select	ENSP00000261534.4:n.657-123_657-121del
ENST00000261534.8:c.657-123_657-121del	ENSP00000261534.4:n.657-123_657-121del
ENST00000452340.7:n.680-123_680-121del
ENST00000553863.5:n.321-123_321-121del
ENST00000554948.1:c.384-123_384-121del	ENSP00000452060.1:n.384-123_384-121del
ENST00000555675.5:n.373-123_373-121del
ENST00000556326.5:c.*323-123_*323-121del	ENSP00000450630.1:n.*323-123_*323-121del
ENST00000557289.1:c.56-1811_56-1809del	ENSP00000451115.1:n.56-1811_56-1809del
NM_013382.5:c.657-123_657-121del , LRG_844t1:c.657-123_657-121del	NP_037514.2:n.657-123_657-121del
XM_011536675.1:c.657-123_657-121del	XP_011534977.1:n.657-123_657-121del
XM_011536676.1:c.324-123_324-121del	XP_011534978.1:n.324-123_324-121del
XM_011536677.1:c.547+3320_547+3322del	XP_011534979.1:n.547+3320_547+3322del
XM_011536678.1:c.657-123_657-121del	XP_011534980.1:n.657-123_657-121del
XM_011536679.1:c.-90-1811_-90-1809del	XP_011534981.1:n.-90-1811_-90-1809del
XM_011536680.1:c.657-123_657-121del	XP_011534982.1:n.657-123_657-121del
XR_943416.1:n.860-123_860-121del
XM_011536675.2:c.657-123_657-121del	XP_011534977.1:n.657-123_657-121del
XM_011536676.2:c.324-123_324-121del	XP_011534978.1:n.324-123_324-121del
XM_011536677.3:c.547+3320_547+3322del	XP_011534979.1:n.547+3320_547+3322del
XR_001750279.1:n.857-123_857-121del
XR_001750282.1:n.861-123_861-121del
XR_943416.3:n.858-123_858-121del
NM_013382.6:c.657-123_657-121del	NP_037514.2:n.657-123_657-121del
NM_013382.7:c.657-123_657-121del MANE Select	NP_037514.2:n.657-123_657-121del