Canonical Allele Identifier: CA2642690887

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024840-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024841_2024843del , CM000663.2:g.2024841_2024843del	GRCh38
NC_000001.10:g.1956280_1956282del , CM000663.1:g.1956280_1956282del	GRCh37
NC_000001.9:g.1946140_1946142del	NCBI36
NG_008168.1:g.10513_10515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-101_69-99del MANE Select	ENSP00000367848.4:n.69-101_69-99del
ENST00000638411.1:c.69-101_69-99del	ENSP00000491632.1:n.69-101_69-99del
ENST00000638604.1:n.133-101_133-99del
ENST00000638771.1:c.69-101_69-99del	ENSP00000492435.1:n.69-101_69-99del
ENST00000639045.1:c.*55-101_*55-99del	ENSP00000491997.1:n.*55-101_*55-99del
ENST00000639777.1:n.572_574del
ENST00000639935.1:n.106-101_106-99del
ENST00000640030.1:c.9-101_9-99del	ENSP00000491411.1:n.9-101_9-99del
ENST00000640067.1:c.69-101_69-99del	ENSP00000491844.1:n.69-101_69-99del
ENST00000640423.1:n.78-101_78-99del
ENST00000640949.1:c.69-101_69-99del	ENSP00000492500.1:n.69-101_69-99del
ENST00000378585.5:c.69-101_69-99del	ENSP00000367848.4:n.69-101_69-99del
NM_000815.4:c.69-101_69-99del	NP_000806.2:n.69-101_69-99del
XM_011541194.1:c.108-101_108-99del	XP_011539496.1:n.108-101_108-99del
XM_011541194.3:c.108-101_108-99del	XP_011539496.1:n.108-101_108-99del
XM_017000936.1:c.673_675del	XP_016856425.1:p.Pro225del
NM_000815.5:c.69-101_69-99del MANE Select	NP_000806.2:n.69-101_69-99del