Canonical Allele Identifier: CA1024476147

Gene: IGLL1

Linked Data

• dbSNP Id: rs1924866122
• gnomAD v3: 22-23573281-AG-A
• gnomAD v4: 22-23573281-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573285del , CM000684.2:g.23573285del	GRCh38
NC_000022.10:g.23915472del , CM000684.1:g.23915472del	GRCh37
NC_000022.9:g.22245472del	NCBI36
NG_009791.1:g.12027del , LRG_69:g.12027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.626del MANE Select	ENSP00000329312.2:p.Pro209LeufsTer?
ENST00000249053.3:c.*255del	ENSP00000249053.3:n.*255del
ENST00000330377.2:c.626del	ENSP00000329312.2:p.Pro209LeufsTer?
NM_020070.3:c.626del	NP_064455.1:p.Pro209LeufsTer?
NM_152855.2:c.*255del	NP_690594.1:n.*255del
XM_011530169.1:c.629del	XP_011528471.1:p.Pro210LeufsTer?
XM_011530169.2:c.629del	XP_011528471.1:p.Pro210LeufsTer?
NM_020070.4:c.626del MANE Select	NP_064455.1:p.Pro209LeufsTer?
NM_001369906.1:c.629del	NP_001356835.1:p.Pro210LeufsTer?
NM_152855.3:c.*255del	NP_690594.1:n.*255del