Canonical Allele Identifier: CA1024134920

Gene: GNB1L

Linked Data

• dbSNP Id: rs1937319659
• gnomAD v3: 22-19797461-CAAG-C
• gnomAD v4: 22-19797461-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19797467_19797469del , CM000684.2:g.19797467_19797469del	GRCh38
NC_000022.10:g.19784990_19784992del , CM000684.1:g.19784990_19784992del	GRCh37
NC_000022.9:g.18164990_18164992del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000329517.11:c.732+4537_732+4539del MANE Select	ENSP00000331313.6:n.732+4537_732+4539del
ENST00000329517.10:c.732+4537_732+4539del	ENSP00000331313.6:n.732+4537_732+4539del
ENST00000403325.5:c.732+4537_732+4539del	ENSP00000385154.1:n.732+4537_732+4539del
ENST00000405009.5:c.630+4639_630+4641del	ENSP00000384626.1:n.630+4639_630+4641del
ENST00000460402.5:n.700+4537_700+4539del
NM_053004.2:c.732+4537_732+4539del	NP_443730.1:n.732+4537_732+4539del
NM_053004.3:c.732+4537_732+4539del MANE Select	NP_443730.1:n.732+4537_732+4539del