Canonical Allele Identifier: CA207510
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 211194
dbSNP Id: rs147125937
gnomAD v2: 19-7132275-C-T
gnomAD v3: 19-7132264-C-T
gnomAD v4: 19-7132264-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132264C>T , CM000681.2:g.7132264C>T GRCh38
NC_000019.9:g.7132275C>T , CM000681.1:g.7132275C>T GRCh37
NC_000019.8:g.7083275C>T NCBI36
NG_008852.2:g.166737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2736G>A MANE Select ENSP00000303830.4:p.Arg912=
ENST00000302850.9:c.2736G>A ENSP00000303830.4:p.Arg912=
ENST00000341500.9:c.2700G>A ENSP00000342838.4:p.Arg900=
NM_000208.2:c.2736G>A NP_000199.2:p.Arg912=
NM_000208.3:c.2736G>A NP_000199.2:p.Arg912=
NM_001079817.1:c.2700G>A NP_001073285.1:p.Arg900=
NM_001079817.2:c.2700G>A NP_001073285.1:p.Arg900=
XM_011527988.1:c.2814G>A XP_011526290.1:p.Arg938=
XM_011527989.1:c.2778G>A XP_011526291.1:p.Arg926=
XM_011527988.2:c.2736G>A XP_011526290.2:p.Arg912=
XM_011527989.3:c.2700G>A XP_011526291.2:p.Arg900=
NM_000208.4:c.2736G>A MANE Select NP_000199.2:p.Arg912=
NM_001079817.3:c.2700G>A NP_001073285.1:p.Arg900=