Canonical Allele Identifier: CA2642690993

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025097-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025097_2025098insA , CM000663.2:g.2025097_2025098insA	GRCh38
NC_000001.10:g.1956536_1956537insA , CM000663.1:g.1956536_1956537insA	GRCh37
NC_000001.9:g.1946396_1946397insA	NCBI36
NG_008168.1:g.10769_10770insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.181+43_181+44insA MANE Select	ENSP00000367848.4:n.181+43_181+44insA
ENST00000638411.1:c.181+43_181+44insA	ENSP00000491632.1:n.181+43_181+44insA
ENST00000638604.1:n.245+43_245+44insA
ENST00000638771.1:c.181+43_181+44insA	ENSP00000492435.1:n.181+43_181+44insA
ENST00000639045.1:c.*167+43_*167+44insA	ENSP00000491997.1:n.*167+43_*167+44insA
ENST00000639777.1:n.785+43_785+44insA
ENST00000639935.1:n.218+43_218+44insA
ENST00000640030.1:c.121+43_121+44insA	ENSP00000491411.1:n.121+43_121+44insA
ENST00000640067.1:c.181+43_181+44insA	ENSP00000491844.1:n.181+43_181+44insA
ENST00000640423.1:n.190+43_190+44insA
ENST00000640949.1:c.181+43_181+44insA	ENSP00000492500.1:n.181+43_181+44insA
ENST00000378585.5:c.181+43_181+44insA	ENSP00000367848.4:n.181+43_181+44insA
NM_000815.4:c.181+43_181+44insA	NP_000806.2:n.181+43_181+44insA
XM_011541194.1:c.220+43_220+44insA	XP_011539496.1:n.220+43_220+44insA
XM_011541194.3:c.220+43_220+44insA	XP_011539496.1:n.220+43_220+44insA
XM_017000936.1:c.886+43_886+44insA	XP_016856425.1:n.886+43_886+44insA
NM_000815.5:c.181+43_181+44insA MANE Select	NP_000806.2:n.181+43_181+44insA