Canonical Allele Identifier: CA631693655
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1464061656
gnomAD v2: 19-7128805-A-C
gnomAD v3: 19-7128794-A-C
gnomAD v4: 19-7128794-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128794A>C , CM000681.2:g.7128794A>C GRCh38
NC_000019.9:g.7128805A>C , CM000681.1:g.7128805A>C GRCh37
NC_000019.8:g.7079805A>C NCBI36
NG_008852.2:g.170207T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2945+58T>G MANE Select ENSP00000303830.4:n.2945+58T>G
ENST00000302850.9:c.2945+58T>G ENSP00000303830.4:n.2945+58T>G
ENST00000341500.9:c.2909+58T>G ENSP00000342838.4:n.2909+58T>G
NM_000208.2:c.2945+58T>G NP_000199.2:n.2945+58T>G
NM_000208.3:c.2945+58T>G NP_000199.2:n.2945+58T>G
NM_001079817.1:c.2909+58T>G NP_001073285.1:n.2909+58T>G
NM_001079817.2:c.2909+58T>G NP_001073285.1:n.2909+58T>G
XM_011527988.1:c.3020+58T>G XP_011526290.1:n.3020+58T>G
XM_011527989.1:c.2984+58T>G XP_011526291.1:n.2984+58T>G
XM_011527988.2:c.2942+58T>G XP_011526290.2:n.2942+58T>G
XM_011527989.3:c.2906+58T>G XP_011526291.2:n.2906+58T>G
NM_000208.4:c.2945+58T>G MANE Select NP_000199.2:n.2945+58T>G
NM_001079817.3:c.2909+58T>G NP_001073285.1:n.2909+58T>G