Canonical Allele Identifier: CA2320767920
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1972619018

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125333del , CM000681.2:g.7125333del GRCh38
NC_000019.9:g.7125344del , CM000681.1:g.7125344del GRCh37
NC_000019.8:g.7076344del NCBI36
NG_008852.2:g.173668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3208del MANE Select ENSP00000303830.4:p.Glu1070SerfsTer9
ENST00000302850.9:c.3208del ENSP00000303830.4:p.Glu1070SerfsTer9
ENST00000341500.9:c.3172del ENSP00000342838.4:p.Glu1058SerfsTer9
ENST00000593970.1:n.54del
NM_000208.2:c.3208del NP_000199.2:p.Glu1070SerfsTer9
NM_000208.3:c.3208del NP_000199.2:p.Glu1070SerfsTer9
NM_001079817.1:c.3172del NP_001073285.1:p.Glu1058SerfsTer9
NM_001079817.2:c.3172del NP_001073285.1:p.Glu1058SerfsTer9
XM_011527988.1:c.3283del XP_011526290.1:p.Glu1095SerfsTer9
XM_011527989.1:c.3247del XP_011526291.1:p.Glu1083SerfsTer9
XM_011527988.2:c.3205del XP_011526290.2:p.Glu1069SerfsTer9
XM_011527989.3:c.3169del XP_011526291.2:p.Glu1057SerfsTer9
NM_000208.4:c.3208del MANE Select NP_000199.2:p.Glu1070SerfsTer9
NM_001079817.3:c.3172del NP_001073285.1:p.Glu1058SerfsTer9