Canonical Allele Identifier: CA505400292
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs778625883
gnomAD v4: 19-7125502-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125502C>A , CM000681.2:g.7125502C>A GRCh38
NC_000019.9:g.7125513C>A , CM000681.1:g.7125513C>A GRCh37
NC_000019.8:g.7076513C>A NCBI36
NG_008852.2:g.173499G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3039G>T MANE Select ENSP00000303830.4:p.Pro1013=
ENST00000302850.9:c.3039G>T ENSP00000303830.4:p.Pro1013=
ENST00000341500.9:c.3003G>T ENSP00000342838.4:p.Pro1001=
NM_000208.2:c.3039G>T NP_000199.2:p.Pro1013=
NM_000208.3:c.3039G>T NP_000199.2:p.Pro1013=
NM_001079817.1:c.3003G>T NP_001073285.1:p.Pro1001=
NM_001079817.2:c.3003G>T NP_001073285.1:p.Pro1001=
XM_011527988.1:c.3114G>T XP_011526290.1:p.Pro1038=
XM_011527989.1:c.3078G>T XP_011526291.1:p.Pro1026=
XM_011527988.2:c.3036G>T XP_011526290.2:p.Pro1012=
XM_011527989.3:c.3000G>T XP_011526291.2:p.Pro1000=
NM_000208.4:c.3039G>T MANE Select NP_000199.2:p.Pro1013=
NM_001079817.3:c.3003G>T NP_001073285.1:p.Pro1001=