Canonical Allele Identifier: CA2633067762

Gene: ABCC11

Linked Data

• gnomAD v4: 16-48224135-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48224136del , CM000678.2:g.48224136del	GRCh38
NC_000016.9:g.48258047del , CM000678.1:g.48258047del	GRCh37
NC_000016.8:g.46815548del	NCBI36
NG_011522.1:g.16042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356608.7:c.543+146del MANE Select	ENSP00000349017.2:n.543+146del
ENST00000353782.9:c.543+146del	ENSP00000311326.6:n.543+146del
ENST00000356608.6:c.543+146del	ENSP00000349017.2:n.543+146del
ENST00000394747.5:c.543+146del	ENSP00000378230.1:n.543+146del
ENST00000394748.5:c.543+146del	ENSP00000378231.1:n.543+146del
ENST00000567385.5:n.941+146del
NM_032583.3:c.543+146del	NP_115972.2:n.543+146del
NM_033151.3:c.543+146del	NP_149163.2:n.543+146del
NM_145186.2:c.543+146del	NP_660187.1:n.543+146del
XM_011523396.1:c.345+146del	XP_011521698.1:n.345+146del
XM_017023795.2:c.543+146del	XP_016879284.1:n.543+146del
XM_017023796.2:c.543+146del	XP_016879285.1:n.543+146del
XM_017023797.2:c.543+146del	XP_016879286.1:n.543+146del
XM_017023798.2:c.543+146del	XP_016879287.1:n.543+146del
XM_017023799.2:c.543+146del	XP_016879288.1:n.543+146del
XM_017023800.2:c.543+146del	XP_016879289.1:n.543+146del
XM_017023801.2:c.543+146del	XP_016879290.1:n.543+146del
XM_017023803.1:c.543+146del	XP_016879292.1:n.543+146del
XR_001752012.1:n.3221+146del
NM_001370496.1:c.543+146del	NP_001357425.1:n.543+146del
NM_001370497.1:c.543+146del MANE Select	NP_001357426.1:n.543+146del
NM_032583.4:c.543+146del	NP_115972.2:n.543+146del
NM_033151.4:c.543+146del	NP_149163.2:n.543+146del
NM_145186.3:c.543+146del	NP_660187.1:n.543+146del