Canonical Allele Identifier: CA638949786
Gene: IGLL1 HGNC NCBI

Linked Data

dbSNP Id: rs1365887719
gnomAD v2: 22-23915356-CAGGGAGAAGGGCTGGA-C
gnomAD v3: 22-23573169-CAGGGAGAAGGGCTGGA-C
gnomAD v4: 22-23573169-CAGGGAGAAGGGCTGGA-C
MyVariant Identifiers: chr22:g.23915357_23915372del (hg19) chr22:g.23573170_23573185del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23573170_23573185del , CM000684.2:g.23573170_23573185del GRCh38
NC_000022.10:g.23915357_23915372del , CM000684.1:g.23915357_23915372del GRCh37
NC_000022.9:g.22245357_22245372del NCBI36
NG_009791.1:g.12124_12139del , LRG_69:g.12124_12139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330377.3:c.*81_*96del MANE Select ENSP00000329312.2:n.*81_*96del
ENST00000249053.3:c.*352_*367del ENSP00000249053.3:n.*352_*367del
ENST00000330377.2:c.*81_*96del ENSP00000329312.2:n.*81_*96del
NM_020070.3:c.*81_*96del NP_064455.1:n.*81_*96del
NM_152855.2:c.*352_*367del NP_690594.1:n.*352_*367del
XM_011530169.1:c.*81_*96del XP_011528471.1:n.*81_*96del
XM_011530169.2:c.*81_*96del XP_011528471.1:n.*81_*96del
NM_020070.4:c.*81_*96del MANE Select NP_064455.1:n.*81_*96del
NM_001369906.1:c.*81_*96del NP_001356835.1:n.*81_*96del
NM_152855.3:c.*352_*367del NP_690594.1:n.*352_*367del
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