Canonical Allele Identifier: CA9135391
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 281873
dbSNP Id: rs41304772
gnomAD v2: 19-7126638-C-T
gnomAD v3: 19-7126627-C-T
gnomAD v4: 19-7126627-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7126627C>T , CM000681.2:g.7126627C>T GRCh38
NC_000019.9:g.7126638C>T , CM000681.1:g.7126638C>T GRCh37
NC_000019.8:g.7077638C>T NCBI36
NG_008852.2:g.172374G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2970G>A MANE Select ENSP00000303830.4:p.Pro990=
ENST00000302850.9:c.2970G>A ENSP00000303830.4:p.Pro990=
ENST00000341500.9:c.2934G>A ENSP00000342838.4:p.Pro978=
NM_000208.2:c.2970G>A NP_000199.2:p.Pro990=
NM_000208.3:c.2970G>A NP_000199.2:p.Pro990=
NM_001079817.1:c.2934G>A NP_001073285.1:p.Pro978=
NM_001079817.2:c.2934G>A NP_001073285.1:p.Pro978=
XM_011527988.1:c.3045G>A XP_011526290.1:p.Pro1015=
XM_011527989.1:c.3009G>A XP_011526291.1:p.Pro1003=
XM_011527988.2:c.2967G>A XP_011526290.2:p.Pro989=
XM_011527989.3:c.2931G>A XP_011526291.2:p.Pro977=
NM_000208.4:c.2970G>A MANE Select NP_000199.2:p.Pro990=
NM_001079817.3:c.2934G>A NP_001073285.1:p.Pro978=