Canonical Allele Identifier: CA2625845442

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278597-GAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCCGTCAAGGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278623_77278671del , CM000676.2:g.77278623_77278671del	GRCh38
NC_000014.8:g.77744966_77745014del , CM000676.1:g.77744966_77745014del	GRCh37
NC_000014.7:g.76814719_76814767del	NCBI36
NG_008897.1:g.47237_47285del , LRG_844:g.47237_47285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+83_958-90del
ENST00000556394.2:c.1573+83_1574-90del	ENSP00000451967.2:n.1573+83_1574-90del
ENST00000682247.1:c.2021+83_2022-90del	ENSP00000507213.1:n.2021+83_2022-90del
ENST00000682395.1:n.2496+83_2497-90del
ENST00000682459.1:n.1735+83_1736-90del
ENST00000682467.1:c.1892-138_1892-90del	ENSP00000508062.1:n.1892-138_1892-90del
ENST00000682795.1:c.2179+83_2180-90del	ENSP00000507574.1:n.2179+83_2180-90del
ENST00000682895.1:n.1748+83_1749-90del
ENST00000682955.1:n.1606+83_1607-90del
ENST00000683188.1:c.2293+83_2294-90del
ENST00000683380.1:n.1696+83_1697-90del
ENST00000683907.1:c.297+83_298-90del	ENSP00000507754.1:n.297+83_298-90del
ENST00000684259.1:n.3799+83_3800-90del
ENST00000684538.1:n.1411+83_1412-90del
ENST00000684549.1:n.1583+83_1584-90del
ENST00000261534.9:c.2032+83_2033-90del MANE Select	ENSP00000261534.4:n.2032+83_2033-90del
ENST00000261534.8:c.2032+83_2033-90del	ENSP00000261534.4:n.2032+83_2033-90del
ENST00000452340.7:n.3008+83_3009-90del
ENST00000554767.5:n.2818+83_2819-90del
ENST00000555710.1:c.393+83_394-90del	ENSP00000451730.1:n.393+83_394-90del
ENST00000556394.1:c.88-138_88-90del
ENST00000556446.1:n.333+83_334-90del
ENST00000602717.5:c.247+83_248-90del	ENSP00000487704.1:n.247+83_248-90del
NM_013382.5:c.2032+83_2033-90del , LRG_844t1:c.2032+83_2033-90del	NP_037514.2:n.2032+83_2033-90del
XM_011536675.1:c.2221+83_2222-90del	XP_011534977.1:n.2221+83_2222-90del
XM_011536676.1:c.1888+83_1889-90del	XP_011534978.1:n.1888+83_1889-90del
XM_011536677.1:c.1762+83_1763-90del	XP_011534979.1:n.1762+83_1763-90del
XM_011536679.1:c.1315+83_1316-90del	XP_011534981.1:n.1315+83_1316-90del
XR_943416.1:n.2285+83_2286-90del
XM_011536675.2:c.2221+83_2222-90del	XP_011534977.1:n.2221+83_2222-90del
XM_011536676.2:c.1888+83_1889-90del	XP_011534978.1:n.1888+83_1889-90del
XM_011536677.3:c.1762+83_1763-90del	XP_011534979.1:n.1762+83_1763-90del
XR_001750279.1:n.2318+83_2319-90del
XR_001750282.1:n.2971+83_2972-90del
XR_943416.3:n.2283+83_2284-90del
NM_013382.6:c.2032+83_2033-90del	NP_037514.2:n.2032+83_2033-90del
NM_013382.7:c.2032+83_2033-90del MANE Select	NP_037514.2:n.2032+83_2033-90del