Canonical Allele Identifier: CA964937409

Gene: POMT2

Linked Data

• gnomAD v3: 14-77306149-TCCC-T
• gnomAD v4: 14-77306149-TCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306150_77306152del , CM000676.2:g.77306150_77306152del	GRCh38
NC_000014.8:g.77772493_77772495del , CM000676.1:g.77772493_77772495del	GRCh37
NC_000014.7:g.76842246_76842248del	NCBI36
NG_008897.1:g.19731_19733del , LRG_844:g.19731_19733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.352_354del
ENST00000556394.2:c.249-1352_249-1350del	ENSP00000451967.2:n.249-1352_249-1350del
ENST00000556880.6:n.462+94_462+96del
ENST00000682247.1:c.438+185_438+187del	ENSP00000507213.1:n.438+185_438+187del
ENST00000682382.1:c.386+185_386+187del
ENST00000682395.1:n.167+185_167+187del
ENST00000682459.1:n.102+250_102+252del
ENST00000682467.1:c.438+185_438+187del	ENSP00000508062.1:n.438+185_438+187del
ENST00000682795.1:c.438+185_438+187del	ENSP00000507574.1:n.438+185_438+187del
ENST00000682895.1:n.154+185_154+187del
ENST00000682955.1:n.102+250_102+252del
ENST00000683188.1:c.233+185_233+187del
ENST00000683380.1:n.102+250_102+252del
ENST00000683828.1:c.307+185_307+187del
ENST00000684102.1:n.369_371del
ENST00000684259.1:n.289+185_289+187del
ENST00000684479.1:n.105+185_105+187del
ENST00000684549.1:n.258+94_258+96del
ENST00000684600.1:c.252+185_252+187del
ENST00000684670.1:n.105+185_105+187del
ENST00000261534.9:c.438+185_438+187del MANE Select	ENSP00000261534.4:n.438+185_438+187del
ENST00000261534.8:c.438+185_438+187del	ENSP00000261534.4:n.438+185_438+187del
ENST00000452340.7:n.461+185_461+187del
ENST00000553863.5:n.102+250_102+252del
ENST00000554948.1:c.165+185_165+187del	ENSP00000452060.1:n.165+185_165+187del
ENST00000555675.5:n.154+185_154+187del
ENST00000555788.5:n.363+94_363+96del
ENST00000556326.5:c.*104+185_*104+187del	ENSP00000450630.1:n.*104+185_*104+187del
ENST00000556880.5:n.462+94_462+96del
ENST00000557525.1:n.528+185_528+187del
NM_013382.5:c.438+185_438+187del , LRG_844t1:c.438+185_438+187del	NP_037514.2:n.438+185_438+187del
XM_011536675.1:c.438+185_438+187del	XP_011534977.1:n.438+185_438+187del
XM_011536676.1:c.105+185_105+187del	XP_011534978.1:n.105+185_105+187del
XM_011536677.1:c.438+185_438+187del	XP_011534979.1:n.438+185_438+187del
XM_011536678.1:c.438+185_438+187del	XP_011534980.1:n.438+185_438+187del
XM_011536679.1:c.-200+94_-200+96del	XP_011534981.1:n.-200+94_-200+96del
XM_011536680.1:c.438+185_438+187del	XP_011534982.1:n.438+185_438+187del
XR_943416.1:n.641+185_641+187del
XM_011536675.2:c.438+185_438+187del	XP_011534977.1:n.438+185_438+187del
XM_011536676.2:c.105+185_105+187del	XP_011534978.1:n.105+185_105+187del
XM_011536677.3:c.438+185_438+187del	XP_011534979.1:n.438+185_438+187del
XR_001750279.1:n.638+185_638+187del
XR_001750282.1:n.642+185_642+187del
XR_943416.3:n.639+185_639+187del
NM_013382.6:c.438+185_438+187del	NP_037514.2:n.438+185_438+187del
NM_013382.7:c.438+185_438+187del MANE Select	NP_037514.2:n.438+185_438+187del