Canonical Allele Identifier: CA403671404
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125489C>G , CM000681.2:g.7125489C>G GRCh38
NC_000019.9:g.7125500C>G , CM000681.1:g.7125500C>G GRCh37
NC_000019.8:g.7076500C>G NCBI36
NG_008852.2:g.173512G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3052G>C MANE Select ENSP00000303830.4:p.Val1018Leu
ENST00000302850.9:c.3052G>C ENSP00000303830.4:p.Val1018Leu
ENST00000341500.9:c.3016G>C ENSP00000342838.4:p.Val1006Leu
NM_000208.2:c.3052G>C NP_000199.2:p.Val1018Leu
NM_000208.3:c.3052G>C NP_000199.2:p.Val1018Leu
NM_001079817.1:c.3016G>C NP_001073285.1:p.Val1006Leu
NM_001079817.2:c.3016G>C NP_001073285.1:p.Val1006Leu
XM_011527988.1:c.3127G>C XP_011526290.1:p.Val1043Leu
XM_011527989.1:c.3091G>C XP_011526291.1:p.Val1031Leu
XM_011527988.2:c.3049G>C XP_011526290.2:p.Val1017Leu
XM_011527989.3:c.3013G>C XP_011526291.2:p.Val1005Leu
NM_000208.4:c.3052G>C MANE Select NP_000199.2:p.Val1018Leu
NM_001079817.3:c.3016G>C NP_001073285.1:p.Val1006Leu