Canonical Allele Identifier: CA304873546
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs890719760
gnomAD v2: 19-7125531-T-C
gnomAD v4: 19-7125520-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125520T>C , CM000681.2:g.7125520T>C GRCh38
NC_000019.9:g.7125531T>C , CM000681.1:g.7125531T>C GRCh37
NC_000019.8:g.7076531T>C NCBI36
NG_008852.2:g.173481A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3021A>G MANE Select ENSP00000303830.4:p.Pro1007=
ENST00000302850.9:c.3021A>G ENSP00000303830.4:p.Pro1007=
ENST00000341500.9:c.2985A>G ENSP00000342838.4:p.Pro995=
NM_000208.2:c.3021A>G NP_000199.2:p.Pro1007=
NM_000208.3:c.3021A>G NP_000199.2:p.Pro1007=
NM_001079817.1:c.2985A>G NP_001073285.1:p.Pro995=
NM_001079817.2:c.2985A>G NP_001073285.1:p.Pro995=
XM_011527988.1:c.3096A>G XP_011526290.1:p.Pro1032=
XM_011527989.1:c.3060A>G XP_011526291.1:p.Pro1020=
XM_011527988.2:c.3018A>G XP_011526290.2:p.Pro1006=
XM_011527989.3:c.2982A>G XP_011526291.2:p.Pro994=
NM_000208.4:c.3021A>G MANE Select NP_000199.2:p.Pro1007=
NM_001079817.3:c.2985A>G NP_001073285.1:p.Pro995=