Canonical Allele Identifier: CA505216642
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1207707972
gnomAD v2: 19-7120657-C-T
gnomAD v3: 19-7120646-C-T
gnomAD v4: 19-7120646-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7120646C>T , CM000681.2:g.7120646C>T GRCh38
NC_000019.9:g.7120657C>T , CM000681.1:g.7120657C>T GRCh37
NC_000019.8:g.7071657C>T NCBI36
NG_008852.2:g.178355G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3633G>A MANE Select ENSP00000303830.4:p.Gly1211=
ENST00000302850.9:c.3633G>A ENSP00000303830.4:p.Gly1211=
ENST00000341500.9:c.3597G>A ENSP00000342838.4:p.Gly1199=
ENST00000601099.1:n.544G>A
NM_000208.2:c.3633G>A NP_000199.2:p.Gly1211=
NM_000208.3:c.3633G>A NP_000199.2:p.Gly1211=
NM_001079817.1:c.3597G>A NP_001073285.1:p.Gly1199=
NM_001079817.2:c.3597G>A NP_001073285.1:p.Gly1199=
XM_011527988.1:c.3708G>A XP_011526290.1:p.Gly1236=
XM_011527989.1:c.3672G>A XP_011526291.1:p.Gly1224=
XM_011527988.2:c.3630G>A XP_011526290.2:p.Gly1210=
XM_011527989.3:c.3594G>A XP_011526291.2:p.Gly1198=
NM_000208.4:c.3633G>A MANE Select NP_000199.2:p.Gly1211=
NM_001079817.3:c.3597G>A NP_001073285.1:p.Gly1199=