Canonical Allele Identifier: CA2642690841

Gene: GABRD

Linked Data

• dbSNP Id: rs2102146776
• gnomAD v4: 1-2024805-C-CTGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024806_2024810dup , CM000663.2:g.2024806_2024810dup	GRCh38
NC_000001.10:g.1956245_1956249dup , CM000663.1:g.1956245_1956249dup	GRCh37
NC_000001.9:g.1946105_1946109dup	NCBI36
NG_008168.1:g.10478_10482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-136_69-132dup MANE Select	ENSP00000367848.4:n.69-136_69-132dup
ENST00000638411.1:c.69-136_69-132dup	ENSP00000491632.1:n.69-136_69-132dup
ENST00000638604.1:n.133-136_133-132dup
ENST00000638771.1:c.69-136_69-132dup	ENSP00000492435.1:n.69-136_69-132dup
ENST00000639045.1:c.*55-136_*55-132dup	ENSP00000491997.1:n.*55-136_*55-132dup
ENST00000639777.1:n.537_541dup
ENST00000639935.1:n.106-136_106-132dup
ENST00000640030.1:c.9-136_9-132dup	ENSP00000491411.1:n.9-136_9-132dup
ENST00000640067.1:c.69-136_69-132dup	ENSP00000491844.1:n.69-136_69-132dup
ENST00000640423.1:n.78-136_78-132dup
ENST00000640949.1:c.69-136_69-132dup	ENSP00000492500.1:n.69-136_69-132dup
ENST00000378585.5:c.69-136_69-132dup	ENSP00000367848.4:n.69-136_69-132dup
NM_000815.4:c.69-136_69-132dup	NP_000806.2:n.69-136_69-132dup
XM_011541194.1:c.108-136_108-132dup	XP_011539496.1:n.108-136_108-132dup
XM_011541194.3:c.108-136_108-132dup	XP_011539496.1:n.108-136_108-132dup
XM_017000936.1:c.638_642dup	XP_016856425.1:p.Gly215CysfsTer?
NM_000815.5:c.69-136_69-132dup MANE Select	NP_000806.2:n.69-136_69-132dup