Canonical Allele Identifier: CA2642690995

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025098-C-CGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025098_2025099insGGCCT , CM000663.2:g.2025098_2025099insGGCCT	GRCh38
NC_000001.10:g.1956537_1956538insGGCCT , CM000663.1:g.1956537_1956538insGGCCT	GRCh37
NC_000001.9:g.1946397_1946398insGGCCT	NCBI36
NG_008168.1:g.10770_10771insGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+44_181+45insGGCCT MANE Select	ENSP00000367848.4:n.181+44_181+45insGGCCT
ENST00000638411.1:c.181+44_181+45insGGCCT	ENSP00000491632.1:n.181+44_181+45insGGCCT
ENST00000638604.1:n.245+44_245+45insGGCCT
ENST00000638771.1:c.181+44_181+45insGGCCT	ENSP00000492435.1:n.181+44_181+45insGGCCT
ENST00000639045.1:c.*167+44_*167+45insGGCCT	ENSP00000491997.1:n.*167+44_*167+45insGGCCT
ENST00000639777.1:n.785+44_785+45insGGCCT
ENST00000639935.1:n.218+44_218+45insGGCCT
ENST00000640030.1:c.121+44_121+45insGGCCT	ENSP00000491411.1:n.121+44_121+45insGGCCT
ENST00000640067.1:c.181+44_181+45insGGCCT	ENSP00000491844.1:n.181+44_181+45insGGCCT
ENST00000640423.1:n.190+44_190+45insGGCCT
ENST00000640949.1:c.181+44_181+45insGGCCT	ENSP00000492500.1:n.181+44_181+45insGGCCT
ENST00000378585.5:c.181+44_181+45insGGCCT	ENSP00000367848.4:n.181+44_181+45insGGCCT
NM_000815.4:c.181+44_181+45insGGCCT	NP_000806.2:n.181+44_181+45insGGCCT
XM_011541194.1:c.220+44_220+45insGGCCT	XP_011539496.1:n.220+44_220+45insGGCCT
XM_011541194.3:c.220+44_220+45insGGCCT	XP_011539496.1:n.220+44_220+45insGGCCT
XM_017000936.1:c.886+44_886+45insGGCCT	XP_016856425.1:n.886+44_886+45insGGCCT
NM_000815.5:c.181+44_181+45insGGCCT MANE Select	NP_000806.2:n.181+44_181+45insGGCCT