Canonical Allele Identifier: CA505400199
Gene: INSR HGNC NCBI

Linked Data

gnomAD v3: 19-7125346-G-C
gnomAD v4: 19-7125346-G-C
MyVariant Identifiers: chr19:g.7125357G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125346G>C , CM000681.2:g.7125346G>C GRCh38
NC_000019.9:g.7125357G>C , CM000681.1:g.7125357G>C GRCh37
NC_000019.8:g.7076357G>C NCBI36
NG_008852.2:g.173655C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3195C>G MANE Select ENSP00000303830.4:p.Leu1065=
ENST00000302850.9:c.3195C>G ENSP00000303830.4:p.Leu1065=
ENST00000341500.9:c.3159C>G ENSP00000342838.4:p.Leu1053=
ENST00000593970.1:n.41C>G
NM_000208.2:c.3195C>G NP_000199.2:p.Leu1065=
NM_000208.3:c.3195C>G NP_000199.2:p.Leu1065=
NM_001079817.1:c.3159C>G NP_001073285.1:p.Leu1053=
NM_001079817.2:c.3159C>G NP_001073285.1:p.Leu1053=
XM_011527988.1:c.3270C>G XP_011526290.1:p.Leu1090=
XM_011527989.1:c.3234C>G XP_011526291.1:p.Leu1078=
XM_011527988.2:c.3192C>G XP_011526290.2:p.Leu1064=
XM_011527989.3:c.3156C>G XP_011526291.2:p.Leu1052=
NM_000208.4:c.3195C>G MANE Select NP_000199.2:p.Leu1065=
NM_001079817.3:c.3159C>G NP_001073285.1:p.Leu1053=