Canonical Allele Identifier: CA403670869
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7122947-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122947C>T , CM000681.2:g.7122947C>T GRCh38
NC_000019.9:g.7122958C>T , CM000681.1:g.7122958C>T GRCh37
NC_000019.8:g.7073958C>T NCBI36
NG_008852.2:g.176054G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3301G>A MANE Select ENSP00000303830.4:p.Val1101Met
ENST00000302850.9:c.3301G>A ENSP00000303830.4:p.Val1101Met
ENST00000341500.9:c.3265G>A ENSP00000342838.4:p.Val1089Met
ENST00000593970.1:n.147G>A
ENST00000601099.1:n.212G>A
NM_000208.2:c.3301G>A NP_000199.2:p.Val1101Met
NM_000208.3:c.3301G>A NP_000199.2:p.Val1101Met
NM_001079817.1:c.3265G>A NP_001073285.1:p.Val1089Met
NM_001079817.2:c.3265G>A NP_001073285.1:p.Val1089Met
XM_011527988.1:c.3376G>A XP_011526290.1:p.Val1126Met
XM_011527989.1:c.3340G>A XP_011526291.1:p.Val1114Met
XM_011527988.2:c.3298G>A XP_011526290.2:p.Val1100Met
XM_011527989.3:c.3262G>A XP_011526291.2:p.Val1088Met
NM_000208.4:c.3301G>A MANE Select NP_000199.2:p.Val1101Met
NM_001079817.3:c.3265G>A NP_001073285.1:p.Val1089Met