Canonical Allele Identifier: CA2574176700

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025138_2025149dup , CM000663.2:g.2025138_2025149dup	GRCh38
NC_000001.10:g.1956577_1956588dup , CM000663.1:g.1956577_1956588dup	GRCh37
NC_000001.9:g.1946437_1946448dup	NCBI36
NG_008168.1:g.10810_10821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+84_181+95dup MANE Select	ENSP00000367848.4:n.181+84_181+95dup
ENST00000638411.1:c.181+84_181+95dup	ENSP00000491632.1:n.181+84_181+95dup
ENST00000638604.1:n.245+84_245+95dup
ENST00000638771.1:c.181+84_181+95dup	ENSP00000492435.1:n.181+84_181+95dup
ENST00000639045.1:c.*167+84_*167+95dup	ENSP00000491997.1:n.*167+84_*167+95dup
ENST00000639777.1:n.785+84_785+95dup
ENST00000639935.1:n.218+84_218+95dup
ENST00000640030.1:c.121+84_121+95dup	ENSP00000491411.1:n.121+84_121+95dup
ENST00000640067.1:c.181+84_181+95dup	ENSP00000491844.1:n.181+84_181+95dup
ENST00000640423.1:n.190+84_190+95dup
ENST00000640949.1:c.181+84_181+95dup	ENSP00000492500.1:n.181+84_181+95dup
ENST00000378585.5:c.181+84_181+95dup	ENSP00000367848.4:n.181+84_181+95dup
NM_000815.4:c.181+84_181+95dup	NP_000806.2:n.181+84_181+95dup
XM_011541194.1:c.220+84_220+95dup	XP_011539496.1:n.220+84_220+95dup
XM_011541194.3:c.220+84_220+95dup	XP_011539496.1:n.220+84_220+95dup
XM_017000936.1:c.886+84_886+95dup	XP_016856425.1:n.886+84_886+95dup
NM_000815.5:c.181+84_181+95dup MANE Select	NP_000806.2:n.181+84_181+95dup