Canonical Allele Identifier: CA776157518

Gene: GNAL

Linked Data

• dbSNP Id: rs1286660962
• gnomAD v3: 18-11881982-T-TCAA
• gnomAD v4: 18-11881982-T-TCAA
• MyVariant Identifiers: chr18:g.11881981_11881982insCAA (hg19) ; chr18:g.11881982_11881983insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881985_11881987dup , CM000680.2:g.11881985_11881987dup	GRCh38
NC_000018.9:g.11881984_11881986dup , CM000680.1:g.11881984_11881986dup	GRCh37
NC_000018.8:g.11871984_11871986dup	NCBI36
NG_033866.1:g.197971_197973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.*850_*852dup MANE Select	ENSP00000334051.5:n.*850_*852dup
ENST00000423027.8:c.*850_*852dup MANE Plus Clinical	ENSP00000408489.2:n.*850_*852dup
ENST00000334049.10:c.*850_*852dup	ENSP00000334051.5:n.*850_*852dup
NM_001142339.2:c.*850_*852dup	NP_001135811.1:n.*850_*852dup
NM_001261443.1:c.*850_*852dup	NP_001248372.1:n.*850_*852dup
NM_001261444.1:c.*850_*852dup	NP_001248373.1:n.*850_*852dup
NM_182978.3:c.*850_*852dup	NP_892023.1:n.*850_*852dup
XM_024451164.1:c.*850_*852dup	XP_024306932.1:n.*850_*852dup
NM_182978.4:c.*850_*852dup MANE Select	NP_892023.1:n.*850_*852dup
NM_001261444.2:c.*850_*852dup	NP_001248373.1:n.*850_*852dup
NM_001369387.1:c.*850_*852dup MANE Plus Clinical	NP_001356316.1:n.*850_*852dup
NM_001142339.3:c.*850_*852dup	NP_001135811.1:n.*850_*852dup
NM_001261443.2:c.*850_*852dup	NP_001248372.1:n.*850_*852dup