Canonical Allele Identifier: CA631692773
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1228912380
gnomAD v2: 19-7120627-T-G
gnomAD v4: 19-7120616-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7120616T>G , CM000681.2:g.7120616T>G GRCh38
NC_000019.9:g.7120627T>G , CM000681.1:g.7120627T>G GRCh37
NC_000019.8:g.7071627T>G NCBI36
NG_008852.2:g.178385A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3659+4A>C MANE Select ENSP00000303830.4:n.3659+4A>C
ENST00000302850.9:c.3659+4A>C ENSP00000303830.4:n.3659+4A>C
ENST00000341500.9:c.3623+4A>C ENSP00000342838.4:n.3623+4A>C
NM_000208.2:c.3659+4A>C NP_000199.2:n.3659+4A>C
NM_000208.3:c.3659+4A>C NP_000199.2:n.3659+4A>C
NM_001079817.1:c.3623+4A>C NP_001073285.1:n.3623+4A>C
NM_001079817.2:c.3623+4A>C NP_001073285.1:n.3623+4A>C
XM_011527988.1:c.3734+4A>C XP_011526290.1:n.3734+4A>C
XM_011527989.1:c.3698+4A>C XP_011526291.1:n.3698+4A>C
XM_011527988.2:c.3656+4A>C XP_011526290.2:n.3656+4A>C
XM_011527989.3:c.3620+4A>C XP_011526291.2:n.3620+4A>C
NM_000208.4:c.3659+4A>C MANE Select NP_000199.2:n.3659+4A>C
NM_001079817.3:c.3623+4A>C NP_001073285.1:n.3623+4A>C