Canonical Allele Identifier: CA2642690637

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024656-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024657_2024658del , CM000663.2:g.2024657_2024658del	GRCh38
NC_000001.10:g.1956096_1956097del , CM000663.1:g.1956096_1956097del	GRCh37
NC_000001.9:g.1945956_1945957del	NCBI36
NG_008168.1:g.10329_10330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-285_69-284del MANE Select	ENSP00000367848.4:n.69-285_69-284del
ENST00000638411.1:c.69-285_69-284del	ENSP00000491632.1:n.69-285_69-284del
ENST00000638604.1:n.133-285_133-284del
ENST00000638771.1:c.69-285_69-284del	ENSP00000492435.1:n.69-285_69-284del
ENST00000639045.1:c.*55-285_*55-284del	ENSP00000491997.1:n.*55-285_*55-284del
ENST00000639777.1:n.388_389del
ENST00000639935.1:n.106-285_106-284del
ENST00000640030.1:c.9-285_9-284del	ENSP00000491411.1:n.9-285_9-284del
ENST00000640067.1:c.69-285_69-284del	ENSP00000491844.1:n.69-285_69-284del
ENST00000640423.1:n.78-285_78-284del
ENST00000640949.1:c.69-285_69-284del	ENSP00000492500.1:n.69-285_69-284del
ENST00000378585.5:c.69-285_69-284del	ENSP00000367848.4:n.69-285_69-284del
NM_000815.4:c.69-285_69-284del	NP_000806.2:n.69-285_69-284del
XM_011541194.1:c.108-285_108-284del	XP_011539496.1:n.108-285_108-284del
XM_011541194.3:c.108-285_108-284del	XP_011539496.1:n.108-285_108-284del
XM_017000936.1:c.489_490del	XP_016856425.1:p.Gln163HisfsTer12
NM_000815.5:c.69-285_69-284del MANE Select	NP_000806.2:n.69-285_69-284del