Canonical Allele Identifier: CA2642690543

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024575-ACCCGAGGCCGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024576_2024588del , CM000663.2:g.2024576_2024588del	GRCh38
NC_000001.10:g.1956015_1956027del , CM000663.1:g.1956015_1956027del	GRCh37
NC_000001.9:g.1945875_1945887del	NCBI36
NG_008168.1:g.10248_10260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-366_69-354del MANE Select	ENSP00000367848.4:n.69-366_69-354del
ENST00000638411.1:c.69-366_69-354del	ENSP00000491632.1:n.69-366_69-354del
ENST00000638604.1:n.133-366_133-354del
ENST00000638771.1:c.69-366_69-354del	ENSP00000492435.1:n.69-366_69-354del
ENST00000639045.1:c.*55-366_*55-354del	ENSP00000491997.1:n.*55-366_*55-354del
ENST00000639777.1:n.307_319del
ENST00000639935.1:n.106-366_106-354del
ENST00000640030.1:c.9-366_9-354del	ENSP00000491411.1:n.9-366_9-354del
ENST00000640067.1:c.69-366_69-354del	ENSP00000491844.1:n.69-366_69-354del
ENST00000640423.1:n.78-366_78-354del
ENST00000640949.1:c.69-366_69-354del	ENSP00000492500.1:n.69-366_69-354del
ENST00000378585.5:c.69-366_69-354del	ENSP00000367848.4:n.69-366_69-354del
NM_000815.4:c.69-366_69-354del	NP_000806.2:n.69-366_69-354del
XM_011541194.1:c.108-366_108-354del	XP_011539496.1:n.108-366_108-354del
XM_011541194.3:c.108-366_108-354del	XP_011539496.1:n.108-366_108-354del
XM_017000936.1:c.408_420del	XP_016856425.1:p.Pro139AlafsTer3
NM_000815.5:c.69-366_69-354del MANE Select	NP_000806.2:n.69-366_69-354del