Canonical Allele Identifier: CA2587922492
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7129003-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7129003A>C , CM000681.2:g.7129003A>C GRCh38
NC_000019.9:g.7129014A>C , CM000681.1:g.7129014A>C GRCh37
NC_000019.8:g.7080014A>C NCBI36
NG_008852.2:g.169998T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2843-49T>G MANE Select ENSP00000303830.4:n.2843-49T>G
ENST00000302850.9:c.2843-49T>G ENSP00000303830.4:n.2843-49T>G
ENST00000341500.9:c.2807-49T>G ENSP00000342838.4:n.2807-49T>G
NM_000208.2:c.2843-49T>G NP_000199.2:n.2843-49T>G
NM_000208.3:c.2843-49T>G NP_000199.2:n.2843-49T>G
NM_001079817.1:c.2807-49T>G NP_001073285.1:n.2807-49T>G
NM_001079817.2:c.2807-49T>G NP_001073285.1:n.2807-49T>G
XM_011527988.1:c.2921-52T>G XP_011526290.1:n.2921-52T>G
XM_011527989.1:c.2885-52T>G XP_011526291.1:n.2885-52T>G
XM_011527988.2:c.2843-52T>G XP_011526290.2:n.2843-52T>G
XM_011527989.3:c.2807-52T>G XP_011526291.2:n.2807-52T>G
NM_000208.4:c.2843-49T>G MANE Select NP_000199.2:n.2843-49T>G
NM_001079817.3:c.2807-49T>G NP_001073285.1:n.2807-49T>G