Canonical Allele Identifier: CA2642690970

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025053-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025054_2025055del , CM000663.2:g.2025054_2025055del	GRCh38
NC_000001.10:g.1956493_1956494del , CM000663.1:g.1956493_1956494del	GRCh37
NC_000001.9:g.1946353_1946354del	NCBI36
NG_008168.1:g.10726_10727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181_181+1del
ENST00000638411.1:c.181_181+1del
ENST00000638604.1:n.245_245+1del
ENST00000638771.1:c.181_181+1del
ENST00000639045.1:c.*167_*167+1del
ENST00000639777.1:n.785_785+1del
ENST00000639935.1:n.218_218+1del
ENST00000640030.1:c.121_121+1del
ENST00000640067.1:c.181_181+1del
ENST00000640423.1:n.190_190+1del
ENST00000640949.1:c.181_181+1del
ENST00000378585.5:c.181_181+1del
NM_000815.4:c.181_181+1del
XM_011541194.1:c.220_220+1del
XM_011541194.3:c.220_220+1del
XM_017000936.1:c.886_886+1del
NM_000815.5:c.181_181+1del