Canonical Allele Identifier: CA615418372

Gene: POMT2

Linked Data

• dbSNP Id: rs1331895827
• gnomAD v2: 14-77767357-CAG-C
• gnomAD v3: 14-77301014-CAG-C
• gnomAD v4: 14-77301014-CAG-C
• MyVariant Identifiers: chr14:g.77767358_77767359del (hg19) ; chr14:g.77301015_77301016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301018_77301019del , CM000676.2:g.77301018_77301019del	GRCh38
NC_000014.8:g.77767361_77767362del , CM000676.1:g.77767361_77767362del	GRCh37
NC_000014.7:g.76837114_76837115del	NCBI36
NG_008897.1:g.24867_24868del , LRG_844:g.24867_24868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+74_269+75del	ENSP00000508202.1:n.269+74_269+75del
ENST00000556394.2:c.358-1455_358-1454del	ENSP00000451967.2:n.358-1455_358-1454del
ENST00000557289.2:c.160+74_160+75del
ENST00000682247.1:c.816+74_816+75del	ENSP00000507213.1:n.816+74_816+75del
ENST00000682382.1:c.496-2245_496-2244del
ENST00000682395.1:n.545+74_545+75del
ENST00000682459.1:n.480+74_480+75del
ENST00000682467.1:c.816+74_816+75del	ENSP00000508062.1:n.816+74_816+75del
ENST00000682795.1:c.816+74_816+75del	ENSP00000507574.1:n.816+74_816+75del
ENST00000682895.1:n.532+74_532+75del
ENST00000682955.1:n.212-2245_212-2244del
ENST00000683167.1:c.160+74_160+75del
ENST00000683188.1:c.343-1455_343-1454del
ENST00000683300.1:c.109+3676_109+3677del	ENSP00000507630.1:n.109+3676_109+3677del
ENST00000683328.1:c.109+3676_109+3677del	ENSP00000508096.1:n.109+3676_109+3677del
ENST00000683380.1:n.480+74_480+75del
ENST00000683398.1:c.161-15_161-14del
ENST00000683551.1:c.109+1819_109+1820del
ENST00000683828.1:c.526-1455_526-1454del
ENST00000684259.1:n.667+74_667+75del
ENST00000684549.1:n.368-1455_368-1454del
ENST00000684554.1:c.160+74_160+75del
ENST00000261534.9:c.816+74_816+75del MANE Select	ENSP00000261534.4:n.816+74_816+75del
ENST00000261534.8:c.816+74_816+75del	ENSP00000261534.4:n.816+74_816+75del
ENST00000452340.7:n.839+74_839+75del
ENST00000553863.5:n.480+74_480+75del
ENST00000554767.5:n.148_149del
ENST00000556326.5:c.*482+74_*482+75del	ENSP00000450630.1:n.*482+74_*482+75del
ENST00000557289.1:c.56-1455_56-1454del	ENSP00000451115.1:n.56-1455_56-1454del
NM_013382.5:c.816+74_816+75del , LRG_844t1:c.816+74_816+75del	NP_037514.2:n.816+74_816+75del
XM_011536675.1:c.816+74_816+75del	XP_011534977.1:n.816+74_816+75del
XM_011536676.1:c.483+74_483+75del	XP_011534978.1:n.483+74_483+75del
XM_011536677.1:c.547+3676_547+3677del	XP_011534979.1:n.547+3676_547+3677del
XM_011536678.1:c.816+74_816+75del	XP_011534980.1:n.816+74_816+75del
XM_011536679.1:c.-90-1455_-90-1454del	XP_011534981.1:n.-90-1455_-90-1454del
XM_011536680.1:c.816+74_816+75del	XP_011534982.1:n.816+74_816+75del
XR_943416.1:n.1019+74_1019+75del
XM_011536675.2:c.816+74_816+75del	XP_011534977.1:n.816+74_816+75del
XM_011536676.2:c.483+74_483+75del	XP_011534978.1:n.483+74_483+75del
XM_011536677.3:c.547+3676_547+3677del	XP_011534979.1:n.547+3676_547+3677del
XR_001750279.1:n.1016+74_1016+75del
XR_001750282.1:n.1020+74_1020+75del
XR_943416.3:n.1017+74_1017+75del
NM_013382.6:c.816+74_816+75del	NP_037514.2:n.816+74_816+75del
NM_013382.7:c.816+74_816+75del MANE Select	NP_037514.2:n.816+74_816+75del