Canonical Allele Identifier: CA2625845421

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278565-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278571_77278573del , CM000676.2:g.77278571_77278573del	GRCh38
NC_000014.8:g.77744914_77744916del , CM000676.1:g.77744914_77744916del	GRCh37
NC_000014.7:g.76814667_76814669del	NCBI36
NG_008897.1:g.47315_47317del , LRG_844:g.47315_47317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-60_958-58del
ENST00000556394.2:c.1574-60_1574-58del	ENSP00000451967.2:n.1574-60_1574-58del
ENST00000682247.1:c.2022-60_2022-58del	ENSP00000507213.1:n.2022-60_2022-58del
ENST00000682395.1:n.2497-60_2497-58del
ENST00000682459.1:n.1736-60_1736-58del
ENST00000682467.1:c.1892-60_1892-58del	ENSP00000508062.1:n.1892-60_1892-58del
ENST00000682795.1:c.2180-60_2180-58del	ENSP00000507574.1:n.2180-60_2180-58del
ENST00000682895.1:n.1749-60_1749-58del
ENST00000682955.1:n.1607-60_1607-58del
ENST00000683188.1:c.2294-60_2294-58del
ENST00000683380.1:n.1697-60_1697-58del
ENST00000683907.1:c.298-60_298-58del	ENSP00000507754.1:n.298-60_298-58del
ENST00000684259.1:n.3800-60_3800-58del
ENST00000684538.1:n.1412-60_1412-58del
ENST00000684549.1:n.1584-60_1584-58del
ENST00000261534.9:c.2033-60_2033-58del MANE Select	ENSP00000261534.4:n.2033-60_2033-58del
ENST00000261534.8:c.2033-60_2033-58del	ENSP00000261534.4:n.2033-60_2033-58del
ENST00000452340.7:n.3009-60_3009-58del
ENST00000554767.5:n.2819-60_2819-58del
ENST00000555710.1:c.394-60_394-58del	ENSP00000451730.1:n.394-60_394-58del
ENST00000556394.1:c.88-60_88-58del
ENST00000556446.1:n.334-60_334-58del
ENST00000602717.5:c.248-60_248-58del	ENSP00000487704.1:n.248-60_248-58del
NM_013382.5:c.2033-60_2033-58del , LRG_844t1:c.2033-60_2033-58del	NP_037514.2:n.2033-60_2033-58del
XM_011536675.1:c.2222-60_2222-58del	XP_011534977.1:n.2222-60_2222-58del
XM_011536676.1:c.1889-60_1889-58del	XP_011534978.1:n.1889-60_1889-58del
XM_011536677.1:c.1763-60_1763-58del	XP_011534979.1:n.1763-60_1763-58del
XM_011536679.1:c.1316-60_1316-58del	XP_011534981.1:n.1316-60_1316-58del
XR_943416.1:n.2286-60_2286-58del
XM_011536675.2:c.2222-60_2222-58del	XP_011534977.1:n.2222-60_2222-58del
XM_011536676.2:c.1889-60_1889-58del	XP_011534978.1:n.1889-60_1889-58del
XM_011536677.3:c.1763-60_1763-58del	XP_011534979.1:n.1763-60_1763-58del
XR_001750279.1:n.2319-60_2319-58del
XR_001750282.1:n.2972-60_2972-58del
XR_943416.3:n.2284-60_2284-58del
NM_013382.6:c.2033-60_2033-58del	NP_037514.2:n.2033-60_2033-58del
NM_013382.7:c.2033-60_2033-58del MANE Select	NP_037514.2:n.2033-60_2033-58del