Canonical Allele Identifier: CA2642690651

Gene: GABRD

Linked Data

• gnomAD v4: 1-2024663-G-GCCCCCACAGAGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024663_2024664insCCCCCACAGAGACA , CM000663.2:g.2024663_2024664insCCCCCACAGAGACA	GRCh38
NC_000001.10:g.1956102_1956103insCCCCCACAGAGACA , CM000663.1:g.1956102_1956103insCCCCCACAGAGACA	GRCh37
NC_000001.9:g.1945962_1945963insCCCCCACAGAGACA	NCBI36
NG_008168.1:g.10335_10336insCCCCCACAGAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-279_69-278insCCCCCACAGAGACA MANE Select	ENSP00000367848.4:n.69-279_69-278insCCCCCACAGAGACA
ENST00000638411.1:c.69-279_69-278insCCCCCACAGAGACA	ENSP00000491632.1:n.69-279_69-278insCCCCCACAGAGACA
ENST00000638604.1:n.133-279_133-278insCCCCCACAGAGACA
ENST00000638771.1:c.69-279_69-278insCCCCCACAGAGACA	ENSP00000492435.1:n.69-279_69-278insCCCCCACAGAGACA
ENST00000639045.1:c.*55-279_*55-278insCCCCCACAGAGACA	ENSP00000491997.1:n.*55-279_*55-278insCCCCCACAGAGACA
ENST00000639777.1:n.394_395insCCCCCACAGAGACA
ENST00000639935.1:n.106-279_106-278insCCCCCACAGAGACA
ENST00000640030.1:c.9-279_9-278insCCCCCACAGAGACA	ENSP00000491411.1:n.9-279_9-278insCCCCCACAGAGACA
ENST00000640067.1:c.69-279_69-278insCCCCCACAGAGACA	ENSP00000491844.1:n.69-279_69-278insCCCCCACAGAGACA
ENST00000640423.1:n.78-279_78-278insCCCCCACAGAGACA
ENST00000640949.1:c.69-279_69-278insCCCCCACAGAGACA	ENSP00000492500.1:n.69-279_69-278insCCCCCACAGAGACA
ENST00000378585.5:c.69-279_69-278insCCCCCACAGAGACA	ENSP00000367848.4:n.69-279_69-278insCCCCCACAGAGACA
NM_000815.4:c.69-279_69-278insCCCCCACAGAGACA	NP_000806.2:n.69-279_69-278insCCCCCACAGAGACA
XM_011541194.1:c.108-279_108-278insCCCCCACAGAGACA	XP_011539496.1:n.108-279_108-278insCCCCCACAGAGACA
XM_011541194.3:c.108-279_108-278insCCCCCACAGAGACA	XP_011539496.1:n.108-279_108-278insCCCCCACAGAGACA
XM_017000936.1:c.495_496insCCCCCACAGAGACA	XP_016856425.1:p.Ala166ProfsTer18
NM_000815.5:c.69-279_69-278insCCCCCACAGAGACA MANE Select	NP_000806.2:n.69-279_69-278insCCCCCACAGAGACA