Canonical Allele Identifier: CA11047426
Gene: IRS1 HGNC NCBI
dbSNP:
10205233
gnomAD v2:
2:227614005 C / T
gnomAD v3:
2:226749289 C / T
gnomAD v4:
chr2-226749289-C-T
Joint Max Group AF 0.17119889 (EAS)
Genomes Max Group AF 0.17119889 (EAS)
MyVariant.info:
GRCh38 chr2:g.226749289C>T
GRCh37 chr2:g.227614005C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226749289C>T , CM000664.2:g.226749289C>T GRCh38
NC_000002.11:g.227614005C>T , CM000664.1:g.227614005C>T GRCh37
NC_000002.10:g.227322249C>T NCBI36
NG_015830.1:g.54502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.*22-13039G>A MANE Select ENSP00000304895.4:n.*22-13039G>A
ENST00000305123.5:c.*22-13039G>A ENSP00000304895.4:n.*22-13039G>A
NM_005544.2:c.*22-13039G>A NP_005535.1:n.*22-13039G>A
NM_005544.3:c.*22-13039G>A MANE Select NP_005535.1:n.*22-13039G>A
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