Canonical Allele Identifier: CA2576595069
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7128800-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128800T>C , CM000681.2:g.7128800T>C GRCh38
NC_000019.9:g.7128811T>C , CM000681.1:g.7128811T>C GRCh37
NC_000019.8:g.7079811T>C NCBI36
NG_008852.2:g.170201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2945+52A>G MANE Select ENSP00000303830.4:n.2945+52A>G
ENST00000302850.9:c.2945+52A>G ENSP00000303830.4:n.2945+52A>G
ENST00000341500.9:c.2909+52A>G ENSP00000342838.4:n.2909+52A>G
NM_000208.2:c.2945+52A>G NP_000199.2:n.2945+52A>G
NM_000208.3:c.2945+52A>G NP_000199.2:n.2945+52A>G
NM_001079817.1:c.2909+52A>G NP_001073285.1:n.2909+52A>G
NM_001079817.2:c.2909+52A>G NP_001073285.1:n.2909+52A>G
XM_011527988.1:c.3020+52A>G XP_011526290.1:n.3020+52A>G
XM_011527989.1:c.2984+52A>G XP_011526291.1:n.2984+52A>G
XM_011527988.2:c.2942+52A>G XP_011526290.2:n.2942+52A>G
XM_011527989.3:c.2906+52A>G XP_011526291.2:n.2906+52A>G
NM_000208.4:c.2945+52A>G MANE Select NP_000199.2:n.2945+52A>G
NM_001079817.3:c.2909+52A>G NP_001073285.1:n.2909+52A>G