Canonical Allele Identifier: CA403672069
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1291518060
gnomAD v2: 19-7132250-A-C
gnomAD v3: 19-7132239-A-C
gnomAD v4: 19-7132239-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132239A>C , CM000681.2:g.7132239A>C GRCh38
NC_000019.9:g.7132250A>C , CM000681.1:g.7132250A>C GRCh37
NC_000019.8:g.7083250A>C NCBI36
NG_008852.2:g.166762T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2761T>G MANE Select ENSP00000303830.4:p.Tyr921Asp
ENST00000302850.9:c.2761T>G ENSP00000303830.4:p.Tyr921Asp
ENST00000341500.9:c.2725T>G ENSP00000342838.4:p.Tyr909Asp
NM_000208.2:c.2761T>G NP_000199.2:p.Tyr921Asp
NM_000208.3:c.2761T>G NP_000199.2:p.Tyr921Asp
NM_001079817.1:c.2725T>G NP_001073285.1:p.Tyr909Asp
NM_001079817.2:c.2725T>G NP_001073285.1:p.Tyr909Asp
XM_011527988.1:c.2839T>G XP_011526290.1:p.Tyr947Asp
XM_011527989.1:c.2803T>G XP_011526291.1:p.Tyr935Asp
XM_011527988.2:c.2761T>G XP_011526290.2:p.Tyr921Asp
XM_011527989.3:c.2725T>G XP_011526291.2:p.Tyr909Asp
NM_000208.4:c.2761T>G MANE Select NP_000199.2:p.Tyr921Asp
NM_001079817.3:c.2725T>G NP_001073285.1:p.Tyr909Asp