Canonical Allele Identifier: CA628206685

Gene: GNAL

Linked Data

• dbSNP Id: rs1170489819
• gnomAD v2: 18-11882074-CCT-C
• MyVariant Identifiers: chr18:g.11882075_11882076del (hg19) ; chr18:g.11882076_11882077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11882076_11882077del , CM000680.2:g.11882076_11882077del	GRCh38
NC_000018.9:g.11882075_11882076del , CM000680.1:g.11882075_11882076del	GRCh37
NC_000018.8:g.11872075_11872076del	NCBI36
NG_033866.1:g.198062_198063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.*941_*942del MANE Select	ENSP00000334051.5:n.*941_*942del
ENST00000423027.8:c.*941_*942del MANE Plus Clinical	ENSP00000408489.2:n.*941_*942del
ENST00000334049.10:c.*941_*942del	ENSP00000334051.5:n.*941_*942del
NM_001142339.2:c.*941_*942del	NP_001135811.1:n.*941_*942del
NM_001261443.1:c.*941_*942del	NP_001248372.1:n.*941_*942del
NM_001261444.1:c.*941_*942del	NP_001248373.1:n.*941_*942del
NM_182978.3:c.*941_*942del	NP_892023.1:n.*941_*942del
XM_024451164.1:c.*941_*942del	XP_024306932.1:n.*941_*942del
NM_182978.4:c.*941_*942del MANE Select	NP_892023.1:n.*941_*942del
NM_001261444.2:c.*941_*942del	NP_001248373.1:n.*941_*942del
NM_001369387.1:c.*941_*942del MANE Plus Clinical	NP_001356316.1:n.*941_*942del
NM_001142339.3:c.*941_*942del	NP_001135811.1:n.*941_*942del
NM_001261443.2:c.*941_*942del	NP_001248372.1:n.*941_*942del