Canonical Allele Identifier: CA2642690360

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024469-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024469_2024470insA , CM000663.2:g.2024469_2024470insA	GRCh38
NC_000001.10:g.1955908_1955909insA , CM000663.1:g.1955908_1955909insA	GRCh37
NC_000001.9:g.1945768_1945769insA	NCBI36
NG_008168.1:g.10141_10142insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-473_69-472insA MANE Select	ENSP00000367848.4:n.69-473_69-472insA
ENST00000638411.1:c.69-473_69-472insA	ENSP00000491632.1:n.69-473_69-472insA
ENST00000638604.1:n.133-473_133-472insA
ENST00000638771.1:c.69-473_69-472insA	ENSP00000492435.1:n.69-473_69-472insA
ENST00000639045.1:c.*55-473_*55-472insA	ENSP00000491997.1:n.*55-473_*55-472insA
ENST00000639777.1:n.200_201insA
ENST00000639935.1:n.106-473_106-472insA
ENST00000640030.1:c.9-473_9-472insA	ENSP00000491411.1:n.9-473_9-472insA
ENST00000640067.1:c.69-473_69-472insA	ENSP00000491844.1:n.69-473_69-472insA
ENST00000640423.1:n.78-473_78-472insA
ENST00000640949.1:c.69-473_69-472insA	ENSP00000492500.1:n.69-473_69-472insA
ENST00000378585.5:c.69-473_69-472insA	ENSP00000367848.4:n.69-473_69-472insA
NM_000815.4:c.69-473_69-472insA	NP_000806.2:n.69-473_69-472insA
XM_011541194.1:c.108-473_108-472insA	XP_011539496.1:n.108-473_108-472insA
XM_011541194.3:c.108-473_108-472insA	XP_011539496.1:n.108-473_108-472insA
XM_017000936.1:c.301_302insA	XP_016856425.1:p.Leu101HisfsTer?
NM_000815.5:c.69-473_69-472insA MANE Select	NP_000806.2:n.69-473_69-472insA