Canonical Allele Identifier: CA2642690322

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024433-GGGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024434_2024438del , CM000663.2:g.2024434_2024438del	GRCh38
NC_000001.10:g.1955873_1955877del , CM000663.1:g.1955873_1955877del	GRCh37
NC_000001.9:g.1945733_1945737del	NCBI36
NG_008168.1:g.10106_10110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-508_69-504del MANE Select	ENSP00000367848.4:n.69-508_69-504del
ENST00000638411.1:c.69-508_69-504del	ENSP00000491632.1:n.69-508_69-504del
ENST00000638604.1:n.133-508_133-504del
ENST00000638771.1:c.69-508_69-504del	ENSP00000492435.1:n.69-508_69-504del
ENST00000639045.1:c.*55-508_*55-504del	ENSP00000491997.1:n.*55-508_*55-504del
ENST00000639777.1:n.165_169del
ENST00000639935.1:n.106-508_106-504del
ENST00000640030.1:c.9-508_9-504del	ENSP00000491411.1:n.9-508_9-504del
ENST00000640067.1:c.69-508_69-504del	ENSP00000491844.1:n.69-508_69-504del
ENST00000640423.1:n.78-508_78-504del
ENST00000640949.1:c.69-508_69-504del	ENSP00000492500.1:n.69-508_69-504del
ENST00000378585.5:c.69-508_69-504del	ENSP00000367848.4:n.69-508_69-504del
NM_000815.4:c.69-508_69-504del	NP_000806.2:n.69-508_69-504del
XM_011541194.1:c.108-508_108-504del	XP_011539496.1:n.108-508_108-504del
XM_011541194.3:c.108-508_108-504del	XP_011539496.1:n.108-508_108-504del
XM_017000936.1:c.266_270del	XP_016856425.1:p.Gly89ValfsTer?
NM_000815.5:c.69-508_69-504del MANE Select	NP_000806.2:n.69-508_69-504del