Canonical Allele Identifier: CA645511514

Gene: GABRD

Linked Data

• COSMIC: COSM4564708

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025009_2025010delinsAA , CM000663.2:g.2025009_2025010delinsAA	GRCh38
NC_000001.10:g.1956448_1956449delinsAA , CM000663.1:g.1956448_1956449delinsAA	GRCh37
NC_000001.9:g.1946308_1946309delinsAA	NCBI36
NG_008168.1:g.10681_10682delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.136_137delinsAA MANE Select	ENSP00000367848.4:p.Gly46Lys
ENST00000638411.1:c.136_137delinsAA	ENSP00000491632.1:p.Gly46Lys
ENST00000638604.1:n.200_201delinsAA
ENST00000638771.1:c.136_137delinsAA	ENSP00000492435.1:p.Gly46Lys
ENST00000639045.1:c.*122_*123delinsAA	ENSP00000491997.1:n.*122_*123delinsAA
ENST00000639777.1:n.740_741delinsAA
ENST00000639935.1:n.173_174delinsAA
ENST00000640030.1:c.76_77delinsAA	ENSP00000491411.1:p.Gly26Lys
ENST00000640067.1:c.136_137delinsAA	ENSP00000491844.1:p.Gly46Lys
ENST00000640423.1:n.145_146delinsAA
ENST00000640949.1:c.136_137delinsAA	ENSP00000492500.1:p.Gly46Lys
ENST00000378585.5:c.136_137delinsAA	ENSP00000367848.4:p.Gly46Lys
NM_000815.4:c.136_137delinsAA	NP_000806.2:p.Gly46Lys
XM_011541194.1:c.175_176delinsAA	XP_011539496.1:p.Gly59Lys
XM_011541194.3:c.175_176delinsAA	XP_011539496.1:p.Gly59Lys
XM_017000936.1:c.841_842delinsAA	XP_016856425.1:p.Gly281Lys
NM_000815.5:c.136_137delinsAA MANE Select	NP_000806.2:p.Gly46Lys