Canonical Allele Identifier: CA403669788
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7184388-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184388C>T , CM000681.2:g.7184388C>T GRCh38
NC_000019.9:g.7184399C>T , CM000681.1:g.7184399C>T GRCh37
NC_000019.8:g.7135399C>T NCBI36
NG_008852.2:g.114613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.902G>A MANE Select ENSP00000303830.4:p.Cys301Tyr
ENST00000302850.9:c.902G>A ENSP00000303830.4:p.Cys301Tyr
ENST00000341500.9:c.902G>A ENSP00000342838.4:p.Cys301Tyr
ENST00000598216.1:n.877G>A
NM_000208.2:c.902G>A NP_000199.2:p.Cys301Tyr
NM_000208.3:c.902G>A NP_000199.2:p.Cys301Tyr
NM_001079817.1:c.902G>A NP_001073285.1:p.Cys301Tyr
NM_001079817.2:c.902G>A NP_001073285.1:p.Cys301Tyr
XM_011527988.1:c.980G>A XP_011526290.1:p.Cys327Tyr
XM_011527989.1:c.980G>A XP_011526291.1:p.Cys327Tyr
XM_011527988.2:c.902G>A XP_011526290.2:p.Cys301Tyr
XM_011527989.3:c.902G>A XP_011526291.2:p.Cys301Tyr
NM_000208.4:c.902G>A MANE Select NP_000199.2:p.Cys301Tyr
NM_001079817.3:c.902G>A NP_001073285.1:p.Cys301Tyr