Canonical Allele Identifier: CA2739267838
Community Standard Title: NM_020070.4(IGLL1):c.163_164dup (p.Gly56LeufsTer9)
Gene: IGLL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23580029_23580030dup , CM000684.2:g.23580029_23580030dup GRCh38
NC_000022.10:g.23922216_23922217dup , CM000684.1:g.23922216_23922217dup GRCh37
NC_000022.9:g.22252216_22252217dup NCBI36
NG_009791.1:g.5281_5282dup , LRG_69:g.5281_5282dup

Transcript Alleles

HGVS Amino-acid Change
NM_020070.4:c.163_164dup MANE Select NP_064455.1:p.Gly56LeufsTer9
ENST00000330377.3:c.163_164dup MANE Select ENSP00000329312.2:p.Gly56LeufsTer9
NM_001369906.1:c.163_164dup NP_001356835.1:p.Gly56LeufsTer9
NM_020070.3:c.163_164dup NP_064455.1:p.Gly56LeufsTer9
NM_152855.2:c.163_164dup NP_690594.1:p.Gly56LeufsTer9
NM_152855.3:c.163_164dup NP_690594.1:p.Gly56LeufsTer9
ENST00000249053.3:c.163_164dup ENSP00000249053.3:p.Gly56LeufsTer9
ENST00000330377.2:c.163_164dup ENSP00000329312.2:p.Gly56LeufsTer9
ENST00000438703.1:c.163_164dup ENSP00000403391.1:p.Gly56LeufsTer9
XM_011530169.1:c.163_164dup XP_011528471.1:p.Gly56LeufsTer9
XM_011530169.2:c.163_164dup XP_011528471.1:p.Gly56LeufsTer9