Canonical Allele Identifier: CA2655672789
Gene: IGLL1 HGNC NCBI

Linked Data

gnomAD v4: 22-23573141-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573144del , CM000684.2:g.23573144del GRCh38
NC_000022.10:g.23915331del , CM000684.1:g.23915331del GRCh37
NC_000022.9:g.22245331del NCBI36
NG_009791.1:g.12167del , LRG_69:g.12167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*124del MANE Select ENSP00000329312.2:n.*124del
ENST00000249053.3:c.*395del ENSP00000249053.3:n.*395del
ENST00000330377.2:c.*124del ENSP00000329312.2:n.*124del
NM_020070.3:c.*124del NP_064455.1:n.*124del
NM_152855.2:c.*395del NP_690594.1:n.*395del
XM_011530169.1:c.*124del XP_011528471.1:n.*124del
XM_011530169.2:c.*124del XP_011528471.1:n.*124del
NM_020070.4:c.*124del MANE Select NP_064455.1:n.*124del
NM_001369906.1:c.*124del NP_001356835.1:n.*124del
NM_152855.3:c.*395del NP_690594.1:n.*395del
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