Canonical Allele Identifier: CA403662601
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1200919231
gnomAD v2: 19-7142995-G-A
gnomAD v4: 19-7142984-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7142984G>A , CM000681.2:g.7142984G>A GRCh38
NC_000019.9:g.7142995G>A , CM000681.1:g.7142995G>A GRCh37
NC_000019.8:g.7093995G>A NCBI36
NG_008852.2:g.156017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2374C>T MANE Select ENSP00000303830.4:p.Pro792Ser
ENST00000302850.9:c.2374C>T ENSP00000303830.4:p.Pro792Ser
ENST00000341500.9:c.2338C>T ENSP00000342838.4:p.Pro780Ser
ENST00000597211.1:n.57C>T
NM_000208.2:c.2374C>T NP_000199.2:p.Pro792Ser
NM_000208.3:c.2374C>T NP_000199.2:p.Pro792Ser
NM_001079817.1:c.2338C>T NP_001073285.1:p.Pro780Ser
NM_001079817.2:c.2338C>T NP_001073285.1:p.Pro780Ser
XM_011527988.1:c.2452C>T XP_011526290.1:p.Pro818Ser
XM_011527989.1:c.2416C>T XP_011526291.1:p.Pro806Ser
XM_011527988.2:c.2374C>T XP_011526290.2:p.Pro792Ser
XM_011527989.3:c.2338C>T XP_011526291.2:p.Pro780Ser
NM_000208.4:c.2374C>T MANE Select NP_000199.2:p.Pro792Ser
NM_001079817.3:c.2338C>T NP_001073285.1:p.Pro780Ser