Canonical Allele Identifier: CA16884230

Gene: GABRD

Linked Data

• dbSNP Id: rs946306035
• gnomAD v2: 1-1955972-CCGACAGGGAGA-C
• gnomAD v3: 1-2024533-CCGACAGGGAGA-C
• gnomAD v4: 1-2024533-CCGACAGGGAGA-C
• MyVariant Identifiers: chr1:g.1955973_1955983del (hg19) ; chr1:g.2024534_2024544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024535_2024545del , CM000663.2:g.2024535_2024545del	GRCh38
NC_000001.10:g.1955974_1955984del , CM000663.1:g.1955974_1955984del	GRCh37
NC_000001.9:g.1945834_1945844del	NCBI36
NG_008168.1:g.10207_10217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-407_69-397del MANE Select	ENSP00000367848.4:n.69-407_69-397del
ENST00000638411.1:c.69-407_69-397del	ENSP00000491632.1:n.69-407_69-397del
ENST00000638604.1:n.133-407_133-397del
ENST00000638771.1:c.69-407_69-397del	ENSP00000492435.1:n.69-407_69-397del
ENST00000639045.1:c.*55-407_*55-397del	ENSP00000491997.1:n.*55-407_*55-397del
ENST00000639777.1:n.266_276del
ENST00000639935.1:n.106-407_106-397del
ENST00000640030.1:c.9-407_9-397del	ENSP00000491411.1:n.9-407_9-397del
ENST00000640067.1:c.69-407_69-397del	ENSP00000491844.1:n.69-407_69-397del
ENST00000640423.1:n.78-407_78-397del
ENST00000640949.1:c.69-407_69-397del	ENSP00000492500.1:n.69-407_69-397del
ENST00000378585.5:c.69-407_69-397del	ENSP00000367848.4:n.69-407_69-397del
NM_000815.4:c.69-407_69-397del	NP_000806.2:n.69-407_69-397del
XM_011541194.1:c.108-407_108-397del	XP_011539496.1:n.108-407_108-397del
XM_011541194.3:c.108-407_108-397del	XP_011539496.1:n.108-407_108-397del
XM_017000936.1:c.367_377del	XP_016856425.1:p.Asp123LeufsTer25
NM_000815.5:c.69-407_69-397del MANE Select	NP_000806.2:n.69-407_69-397del