Canonical Allele Identifier: CA505216674
Gene: INSR HGNC NCBI

Linked Data

gnomAD v3: 19-7120679-T-C
gnomAD v4: 19-7120679-T-C
MyVariant Identifiers: chr19:g.7120690T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7120679T>C , CM000681.2:g.7120679T>C GRCh38
NC_000019.9:g.7120690T>C , CM000681.1:g.7120690T>C GRCh37
NC_000019.8:g.7071690T>C NCBI36
NG_008852.2:g.178322A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3600A>G MANE Select ENSP00000303830.4:p.Val1200=
ENST00000302850.9:c.3600A>G ENSP00000303830.4:p.Val1200=
ENST00000341500.9:c.3564A>G ENSP00000342838.4:p.Val1188=
ENST00000601099.1:n.511A>G
NM_000208.2:c.3600A>G NP_000199.2:p.Val1200=
NM_000208.3:c.3600A>G NP_000199.2:p.Val1200=
NM_001079817.1:c.3564A>G NP_001073285.1:p.Val1188=
NM_001079817.2:c.3564A>G NP_001073285.1:p.Val1188=
XM_011527988.1:c.3675A>G XP_011526290.1:p.Val1225=
XM_011527989.1:c.3639A>G XP_011526291.1:p.Val1213=
XM_011527988.2:c.3597A>G XP_011526290.2:p.Val1199=
XM_011527989.3:c.3561A>G XP_011526291.2:p.Val1187=
NM_000208.4:c.3600A>G MANE Select NP_000199.2:p.Val1200=
NM_001079817.3:c.3564A>G NP_001073285.1:p.Val1188=