Canonical Allele Identifier: CA2625845846

Gene: POMT2

Linked Data

• gnomAD v4: 14-77301393-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301393_77301394insCCA , CM000676.2:g.77301393_77301394insCCA	GRCh38
NC_000014.8:g.77767736_77767737insCCA , CM000676.1:g.77767736_77767737insCCA	GRCh37
NC_000014.7:g.76837489_76837490insCCA	NCBI36
NG_008897.1:g.24489_24490insTGG , LRG_844:g.24489_24490insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-145_110-144insTGG	ENSP00000508202.1:n.110-145_110-144insTGG
ENST00000556394.2:c.358-1833_358-1832insTGG	ENSP00000451967.2:n.358-1833_358-1832insTGG
ENST00000556880.6:n.681-145_681-144insTGG
ENST00000682247.1:c.657-145_657-144insTGG	ENSP00000507213.1:n.657-145_657-144insTGG
ENST00000682382.1:c.496-2623_496-2622insTGG
ENST00000682395.1:n.386-145_386-144insTGG
ENST00000682459.1:n.321-145_321-144insTGG
ENST00000682467.1:c.657-145_657-144insTGG	ENSP00000508062.1:n.657-145_657-144insTGG
ENST00000682795.1:c.657-145_657-144insTGG	ENSP00000507574.1:n.657-145_657-144insTGG
ENST00000682895.1:n.373-145_373-144insTGG
ENST00000682955.1:n.212-2623_212-2622insTGG
ENST00000683188.1:c.343-1833_343-1832insTGG
ENST00000683300.1:c.109+3298_109+3299insTGG	ENSP00000507630.1:n.109+3298_109+3299insTGG
ENST00000683328.1:c.109+3298_109+3299insTGG	ENSP00000508096.1:n.109+3298_109+3299insTGG
ENST00000683380.1:n.321-145_321-144insTGG
ENST00000683551.1:c.109+1441_109+1442insTGG
ENST00000683828.1:c.525+1441_525+1442insTGG
ENST00000684259.1:n.508-145_508-144insTGG
ENST00000684549.1:n.368-1833_368-1832insTGG
ENST00000261534.9:c.657-145_657-144insTGG MANE Select	ENSP00000261534.4:n.657-145_657-144insTGG
ENST00000261534.8:c.657-145_657-144insTGG	ENSP00000261534.4:n.657-145_657-144insTGG
ENST00000452340.7:n.680-145_680-144insTGG
ENST00000553863.5:n.321-145_321-144insTGG
ENST00000554948.1:c.384-145_384-144insTGG	ENSP00000452060.1:n.384-145_384-144insTGG
ENST00000555675.5:n.373-145_373-144insTGG
ENST00000556326.5:c.*323-145_*323-144insTGG	ENSP00000450630.1:n.*323-145_*323-144insTGG
ENST00000557289.1:c.56-1833_56-1832insTGG	ENSP00000451115.1:n.56-1833_56-1832insTGG
NM_013382.5:c.657-145_657-144insTGG , LRG_844t1:c.657-145_657-144insTGG	NP_037514.2:n.657-145_657-144insTGG
XM_011536675.1:c.657-145_657-144insTGG	XP_011534977.1:n.657-145_657-144insTGG
XM_011536676.1:c.324-145_324-144insTGG	XP_011534978.1:n.324-145_324-144insTGG
XM_011536677.1:c.547+3298_547+3299insTGG	XP_011534979.1:n.547+3298_547+3299insTGG
XM_011536678.1:c.657-145_657-144insTGG	XP_011534980.1:n.657-145_657-144insTGG
XM_011536679.1:c.-90-1833_-90-1832insTGG	XP_011534981.1:n.-90-1833_-90-1832insTGG
XM_011536680.1:c.657-145_657-144insTGG	XP_011534982.1:n.657-145_657-144insTGG
XR_943416.1:n.860-145_860-144insTGG
XM_011536675.2:c.657-145_657-144insTGG	XP_011534977.1:n.657-145_657-144insTGG
XM_011536676.2:c.324-145_324-144insTGG	XP_011534978.1:n.324-145_324-144insTGG
XM_011536677.3:c.547+3298_547+3299insTGG	XP_011534979.1:n.547+3298_547+3299insTGG
XR_001750279.1:n.857-145_857-144insTGG
XR_001750282.1:n.861-145_861-144insTGG
XR_943416.3:n.858-145_858-144insTGG
NM_013382.6:c.657-145_657-144insTGG	NP_037514.2:n.657-145_657-144insTGG
NM_013382.7:c.657-145_657-144insTGG MANE Select	NP_037514.2:n.657-145_657-144insTGG