Canonical Allele Identifier: CA631723645
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1272239484
gnomAD v2: 19-7122802-G-A
gnomAD v3: 19-7122791-G-A
gnomAD v4: 19-7122791-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122791G>A , CM000681.2:g.7122791G>A GRCh38
NC_000019.9:g.7122802G>A , CM000681.1:g.7122802G>A GRCh37
NC_000019.8:g.7073802G>A NCBI36
NG_008852.2:g.176210C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3370-18C>T MANE Select ENSP00000303830.4:n.3370-18C>T
ENST00000302850.9:c.3370-18C>T ENSP00000303830.4:n.3370-18C>T
ENST00000341500.9:c.3334-18C>T ENSP00000342838.4:n.3334-18C>T
ENST00000593970.1:n.216-18C>T
ENST00000601099.1:n.281-18C>T
NM_000208.2:c.3370-18C>T NP_000199.2:n.3370-18C>T
NM_000208.3:c.3370-18C>T NP_000199.2:n.3370-18C>T
NM_001079817.1:c.3334-18C>T NP_001073285.1:n.3334-18C>T
NM_001079817.2:c.3334-18C>T NP_001073285.1:n.3334-18C>T
XM_011527988.1:c.3445-18C>T XP_011526290.1:n.3445-18C>T
XM_011527989.1:c.3409-18C>T XP_011526291.1:n.3409-18C>T
XM_011527988.2:c.3367-18C>T XP_011526290.2:n.3367-18C>T
XM_011527989.3:c.3331-18C>T XP_011526291.2:n.3331-18C>T
NM_000208.4:c.3370-18C>T MANE Select NP_000199.2:n.3370-18C>T
NM_001079817.3:c.3334-18C>T NP_001073285.1:n.3334-18C>T