Canonical Allele Identifier: CA10143190
Gene: IGLL1 HGNC NCBI

Linked Data

dbSNP Id: rs752450792
ExAC: 22:23915446 TG / T
gnomAD v2: 22-23915446-TG-T
gnomAD v3: 22-23573259-TG-T
gnomAD v4: 22-23573259-TG-T
MyVariant Identifiers: chr22:g.23915447del (hg19) chr22:g.23573261del (hg38) chr22:g.23573260del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573262del , CM000684.2:g.23573262del GRCh38
NC_000022.10:g.23915449del , CM000684.1:g.23915449del GRCh37
NC_000022.9:g.22245449del NCBI36
NG_009791.1:g.12049del , LRG_69:g.12049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*6del MANE Select ENSP00000329312.2:n.*6del
ENST00000249053.3:c.*277del ENSP00000249053.3:n.*277del
ENST00000330377.2:c.*6del ENSP00000329312.2:n.*6del
NM_020070.3:c.*6del NP_064455.1:n.*6del
NM_152855.2:c.*277del NP_690594.1:n.*277del
XM_011530169.1:c.*6del XP_011528471.1:n.*6del
XM_011530169.2:c.*6del XP_011528471.1:n.*6del
NM_020070.4:c.*6del MANE Select NP_064455.1:n.*6del
NM_001369906.1:c.*6del NP_001356835.1:n.*6del
NM_152855.3:c.*277del NP_690594.1:n.*277del
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