Canonical Allele Identifier: CA1149430424

Gene: GABRD

Linked Data

• dbSNP Id: rs1658885318
• gnomAD v3: 1-2025141-C-CCT
• gnomAD v4: 1-2025141-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025144_2025145dup , CM000663.2:g.2025144_2025145dup	GRCh38
NC_000001.10:g.1956583_1956584dup , CM000663.1:g.1956583_1956584dup	GRCh37
NC_000001.9:g.1946443_1946444dup	NCBI36
NG_008168.1:g.10816_10817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+90_181+91dup MANE Select	ENSP00000367848.4:n.181+90_181+91dup
ENST00000638411.1:c.181+90_181+91dup	ENSP00000491632.1:n.181+90_181+91dup
ENST00000638604.1:n.245+90_245+91dup
ENST00000638771.1:c.181+90_181+91dup	ENSP00000492435.1:n.181+90_181+91dup
ENST00000639045.1:c.*167+90_*167+91dup	ENSP00000491997.1:n.*167+90_*167+91dup
ENST00000639777.1:n.785+90_785+91dup
ENST00000639935.1:n.218+90_218+91dup
ENST00000640030.1:c.121+90_121+91dup	ENSP00000491411.1:n.121+90_121+91dup
ENST00000640067.1:c.181+90_181+91dup	ENSP00000491844.1:n.181+90_181+91dup
ENST00000640423.1:n.190+90_190+91dup
ENST00000640949.1:c.181+90_181+91dup	ENSP00000492500.1:n.181+90_181+91dup
ENST00000378585.5:c.181+90_181+91dup	ENSP00000367848.4:n.181+90_181+91dup
NM_000815.4:c.181+90_181+91dup	NP_000806.2:n.181+90_181+91dup
XM_011541194.1:c.220+90_220+91dup	XP_011539496.1:n.220+90_220+91dup
XM_011541194.3:c.220+90_220+91dup	XP_011539496.1:n.220+90_220+91dup
XM_017000936.1:c.886+90_886+91dup	XP_016856425.1:n.886+90_886+91dup
NM_000815.5:c.181+90_181+91dup MANE Select	NP_000806.2:n.181+90_181+91dup