Canonical Allele Identifier: CA2625845375

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278507-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278508_77278509del , CM000676.2:g.77278508_77278509del	GRCh38
NC_000014.8:g.77744851_77744852del , CM000676.1:g.77744851_77744852del	GRCh37
NC_000014.7:g.76814604_76814605del	NCBI36
NG_008897.1:g.47374_47375del , LRG_844:g.47374_47375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-1_958del
ENST00000556394.2:c.1574-1_1574del
ENST00000682247.1:c.2022-1_2022del
ENST00000682395.1:n.2497-1_2497del
ENST00000682459.1:n.1736-1_1736del
ENST00000682467.1:c.1892-1_1892del
ENST00000682795.1:c.2180-1_2180del
ENST00000682895.1:n.1749-1_1749del
ENST00000682955.1:n.1607-1_1607del
ENST00000683188.1:c.2294-1_2294del
ENST00000683380.1:n.1697-1_1697del
ENST00000683907.1:c.298-1_298del
ENST00000684259.1:n.3800-1_3800del
ENST00000684538.1:n.1412-1_1412del
ENST00000684549.1:n.1584-1_1584del
ENST00000261534.9:c.2033-1_2033del
ENST00000261534.8:c.2033-1_2033del
ENST00000452340.7:n.3009-1_3009del
ENST00000554767.5:n.2819-1_2819del
ENST00000555710.1:c.394-1_394del
ENST00000556394.1:c.88-1_88del
ENST00000556446.1:n.334-1_334del
ENST00000602717.5:c.248-1_248del
NM_013382.5:c.2033-1_2033del , LRG_844t1:c.2033-1_2033del
XM_011536675.1:c.2222-1_2222del
XM_011536676.1:c.1889-1_1889del
XM_011536677.1:c.1763-1_1763del
XM_011536679.1:c.1316-1_1316del
XR_943416.1:n.2286-1_2286del
XM_011536675.2:c.2222-1_2222del
XM_011536676.2:c.1889-1_1889del
XM_011536677.3:c.1763-1_1763del
XR_001750279.1:n.2319-1_2319del
XR_001750282.1:n.2972-1_2972del
XR_943416.3:n.2284-1_2284del
NM_013382.6:c.2033-1_2033del
NM_013382.7:c.2033-1_2033del