Canonical Allele Identifier: CA645613085
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125315_7125339del , CM000681.2:g.7125315_7125339del GRCh38
NC_000019.9:g.7125326_7125350del , CM000681.1:g.7125326_7125350del GRCh37
NC_000019.8:g.7076326_7076350del NCBI36
NG_008852.2:g.173665_173689del

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3205_3229del MANE Select ENSP00000303830.4:p.Ile1069SerfsTer2
ENST00000302850.9:c.3205_3229del ENSP00000303830.4:p.Ile1069SerfsTer2
ENST00000341500.9:c.3169_3193del ENSP00000342838.4:p.Ile1057SerfsTer2
ENST00000593970.1:n.51_75del
NM_000208.2:c.3205_3229del NP_000199.2:p.Ile1069SerfsTer2
NM_000208.3:c.3205_3229del NP_000199.2:p.Ile1069SerfsTer2
NM_001079817.1:c.3169_3193del NP_001073285.1:p.Ile1057SerfsTer2
NM_001079817.2:c.3169_3193del NP_001073285.1:p.Ile1057SerfsTer2
XM_011527988.1:c.3280_3304del XP_011526290.1:p.Ile1094SerfsTer2
XM_011527989.1:c.3244_3268del XP_011526291.1:p.Ile1082SerfsTer2
XM_011527988.2:c.3202_3226del XP_011526290.2:p.Ile1068SerfsTer2
XM_011527989.3:c.3166_3190del XP_011526291.2:p.Ile1056SerfsTer2
NM_000208.4:c.3205_3229del MANE Select NP_000199.2:p.Ile1069SerfsTer2
NM_001079817.3:c.3169_3193del NP_001073285.1:p.Ile1057SerfsTer2