Canonical Allele Identifier: CA631723627
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1195893095
gnomAD v2: 19-7123035-G-T
gnomAD v3: 19-7123024-G-T
gnomAD v4: 19-7123024-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7123024G>T , CM000681.2:g.7123024G>T GRCh38
NC_000019.9:g.7123035G>T , CM000681.1:g.7123035G>T GRCh37
NC_000019.8:g.7074035G>T NCBI36
NG_008852.2:g.175977C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3259-35C>A MANE Select ENSP00000303830.4:n.3259-35C>A
ENST00000302850.9:c.3259-35C>A ENSP00000303830.4:n.3259-35C>A
ENST00000341500.9:c.3223-35C>A ENSP00000342838.4:n.3223-35C>A
ENST00000593970.1:n.105-35C>A
ENST00000601099.1:n.135C>A
NM_000208.2:c.3259-35C>A NP_000199.2:n.3259-35C>A
NM_000208.3:c.3259-35C>A NP_000199.2:n.3259-35C>A
NM_001079817.1:c.3223-35C>A NP_001073285.1:n.3223-35C>A
NM_001079817.2:c.3223-35C>A NP_001073285.1:n.3223-35C>A
XM_011527988.1:c.3334-35C>A XP_011526290.1:n.3334-35C>A
XM_011527989.1:c.3298-35C>A XP_011526291.1:n.3298-35C>A
XM_011527988.2:c.3256-35C>A XP_011526290.2:n.3256-35C>A
XM_011527989.3:c.3220-35C>A XP_011526291.2:n.3220-35C>A
NM_000208.4:c.3259-35C>A MANE Select NP_000199.2:n.3259-35C>A
NM_001079817.3:c.3223-35C>A NP_001073285.1:n.3223-35C>A