Canonical Allele Identifier: CA2397855871

Gene: IGLL1

Linked Data

• dbSNP Id: rs1924878360

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573365_23573375del , CM000684.2:g.23573365_23573375del	GRCh38
NC_000022.10:g.23915552_23915562del , CM000684.1:g.23915552_23915562del	GRCh37
NC_000022.9:g.22245552_22245562del	NCBI36
NG_009791.1:g.11936_11946del , LRG_69:g.11936_11946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.535_545del MANE Select	ENSP00000329312.2:p.Leu179AlafsTer?
ENST00000249053.3:c.*164_*174del	ENSP00000249053.3:n.*164_*174del
ENST00000330377.2:c.535_545del	ENSP00000329312.2:p.Leu179AlafsTer?
NM_020070.3:c.535_545del	NP_064455.1:p.Leu179AlafsTer?
NM_152855.2:c.*164_*174del	NP_690594.1:n.*164_*174del
XM_011530169.1:c.538_548del	XP_011528471.1:p.Leu180AlafsTer?
XM_011530169.2:c.538_548del	XP_011528471.1:p.Leu180AlafsTer?
NM_020070.4:c.535_545del MANE Select	NP_064455.1:p.Leu179AlafsTer?
NM_001369906.1:c.538_548del	NP_001356835.1:p.Leu180AlafsTer?
NM_152855.3:c.*164_*174del	NP_690594.1:n.*164_*174del