Canonical Allele Identifier: CA16884226

Gene: GABRD

Linked Data

• dbSNP Id: rs557713000
• gnomAD v4: 1-2024509-TG-T
• MyVariant Identifiers: chr1:g.1955949del (hg19) ; chr1:g.2024510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024514del , CM000663.2:g.2024514del	GRCh38
NC_000001.10:g.1955953del , CM000663.1:g.1955953del	GRCh37
NC_000001.9:g.1945813del	NCBI36
NG_008168.1:g.10186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-428del MANE Select	ENSP00000367848.4:n.69-428del
ENST00000638411.1:c.69-428del	ENSP00000491632.1:n.69-428del
ENST00000638604.1:n.133-428del
ENST00000638771.1:c.69-428del	ENSP00000492435.1:n.69-428del
ENST00000639045.1:c.*55-428del	ENSP00000491997.1:n.*55-428del
ENST00000639777.1:n.245del
ENST00000639935.1:n.106-428del
ENST00000640030.1:c.9-428del	ENSP00000491411.1:n.9-428del
ENST00000640067.1:c.69-428del	ENSP00000491844.1:n.69-428del
ENST00000640423.1:n.78-428del
ENST00000640949.1:c.69-428del	ENSP00000492500.1:n.69-428del
ENST00000378585.5:c.69-428del	ENSP00000367848.4:n.69-428del
NM_000815.4:c.69-428del	NP_000806.2:n.69-428del
XM_011541194.1:c.108-428del	XP_011539496.1:n.108-428del
XM_011541194.3:c.108-428del	XP_011539496.1:n.108-428del
XM_017000936.1:c.346del	XP_016856425.1:p.Glu116LysfsTer14
NM_000815.5:c.69-428del MANE Select	NP_000806.2:n.69-428del