Canonical Allele Identifier: CA2642690967

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025040-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025040_2025041insC , CM000663.2:g.2025040_2025041insC	GRCh38
NC_000001.10:g.1956479_1956480insC , CM000663.1:g.1956479_1956480insC	GRCh37
NC_000001.9:g.1946339_1946340insC	NCBI36
NG_008168.1:g.10712_10713insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.167_168insC MANE Select	ENSP00000367848.4:p.Pro57AlafsTer?
ENST00000638411.1:c.167_168insC	ENSP00000491632.1:p.Pro57AlafsTer?
ENST00000638604.1:n.231_232insC
ENST00000638771.1:c.167_168insC	ENSP00000492435.1:p.Pro57AlafsTer?
ENST00000639045.1:c.*153_*154insC	ENSP00000491997.1:n.*153_*154insC
ENST00000639777.1:n.771_772insC
ENST00000639935.1:n.204_205insC
ENST00000640030.1:c.107_108insC	ENSP00000491411.1:p.Pro37AlafsTer?
ENST00000640067.1:c.167_168insC	ENSP00000491844.1:p.Pro57AlafsTer?
ENST00000640423.1:n.176_177insC
ENST00000640949.1:c.167_168insC	ENSP00000492500.1:p.Pro57AlafsTer?
ENST00000378585.5:c.167_168insC	ENSP00000367848.4:p.Pro57AlafsTer?
NM_000815.4:c.167_168insC	NP_000806.2:p.Pro57AlafsTer?
XM_011541194.1:c.206_207insC	XP_011539496.1:p.Pro70AlafsTer?
XM_011541194.3:c.206_207insC	XP_011539496.1:p.Pro70AlafsTer?
XM_017000936.1:c.872_873insC	XP_016856425.1:p.Pro292AlafsTer?
NM_000815.5:c.167_168insC MANE Select	NP_000806.2:p.Pro57AlafsTer?