Canonical Allele Identifier: CA403670999
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125298-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125298G>T , CM000681.2:g.7125298G>T GRCh38
NC_000019.9:g.7125309G>T , CM000681.1:g.7125309G>T GRCh37
NC_000019.8:g.7076309G>T NCBI36
NG_008852.2:g.173703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3243C>A MANE Select ENSP00000303830.4:p.Phe1081Leu
ENST00000302850.9:c.3243C>A ENSP00000303830.4:p.Phe1081Leu
ENST00000341500.9:c.3207C>A ENSP00000342838.4:p.Phe1069Leu
ENST00000593970.1:n.89C>A
NM_000208.2:c.3243C>A NP_000199.2:p.Phe1081Leu
NM_000208.3:c.3243C>A NP_000199.2:p.Phe1081Leu
NM_001079817.1:c.3207C>A NP_001073285.1:p.Phe1069Leu
NM_001079817.2:c.3207C>A NP_001073285.1:p.Phe1069Leu
XM_011527988.1:c.3318C>A XP_011526290.1:p.Phe1106Leu
XM_011527989.1:c.3282C>A XP_011526291.1:p.Phe1094Leu
XM_011527988.2:c.3240C>A XP_011526290.2:p.Phe1080Leu
XM_011527989.3:c.3204C>A XP_011526291.2:p.Phe1068Leu
NM_000208.4:c.3243C>A MANE Select NP_000199.2:p.Phe1081Leu
NM_001079817.3:c.3207C>A NP_001073285.1:p.Phe1069Leu