Canonical Allele Identifier: CA776157501

Gene: GNAL

Linked Data

• dbSNP Id: rs1471333417
• gnomAD v3: 18-11881930-CTATCTA-C
• gnomAD v4: 18-11881930-CTATCTA-C
• MyVariant Identifiers: chr18:g.11881930_11881935del (hg19) ; chr18:g.11881931_11881936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881933_11881938del , CM000680.2:g.11881933_11881938del	GRCh38
NC_000018.9:g.11881932_11881937del , CM000680.1:g.11881932_11881937del	GRCh37
NC_000018.8:g.11871932_11871937del	NCBI36
NG_033866.1:g.197919_197924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.*798_*803del MANE Select	ENSP00000334051.5:n.*798_*803del
ENST00000423027.8:c.*798_*803del MANE Plus Clinical	ENSP00000408489.2:n.*798_*803del
ENST00000334049.10:c.*798_*803del	ENSP00000334051.5:n.*798_*803del
NM_001142339.2:c.*798_*803del	NP_001135811.1:n.*798_*803del
NM_001261443.1:c.*798_*803del	NP_001248372.1:n.*798_*803del
NM_001261444.1:c.*798_*803del	NP_001248373.1:n.*798_*803del
NM_182978.3:c.*798_*803del	NP_892023.1:n.*798_*803del
XM_024451164.1:c.*798_*803del	XP_024306932.1:n.*798_*803del
NM_182978.4:c.*798_*803del MANE Select	NP_892023.1:n.*798_*803del
NM_001261444.2:c.*798_*803del	NP_001248373.1:n.*798_*803del
NM_001369387.1:c.*798_*803del MANE Plus Clinical	NP_001356316.1:n.*798_*803del
NM_001142339.3:c.*798_*803del	NP_001135811.1:n.*798_*803del
NM_001261443.2:c.*798_*803del	NP_001248372.1:n.*798_*803del