Canonical Allele Identifier: CA884174945
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1404254674
gnomAD v3: 19-7116930-T-A
gnomAD v4: 19-7116930-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116930T>A , CM000681.2:g.7116930T>A GRCh38
NC_000019.9:g.7116941T>A , CM000681.1:g.7116941T>A GRCh37
NC_000019.8:g.7067941T>A NCBI36
NG_008852.2:g.182071A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*126A>T MANE Select ENSP00000303830.4:n.*126A>T
ENST00000302850.9:c.*126A>T ENSP00000303830.4:n.*126A>T
ENST00000341500.9:c.*126A>T ENSP00000342838.4:n.*126A>T
NM_000208.2:c.*126A>T NP_000199.2:n.*126A>T
NM_000208.3:c.*126A>T NP_000199.2:n.*126A>T
NM_001079817.1:c.*126A>T NP_001073285.1:n.*126A>T
NM_001079817.2:c.*126A>T NP_001073285.1:n.*126A>T
XM_011527988.1:c.*126A>T XP_011526290.1:n.*126A>T
XM_011527989.1:c.*126A>T XP_011526291.1:n.*126A>T
XM_011527988.2:c.*126A>T XP_011526290.2:n.*126A>T
XM_011527989.3:c.*126A>T XP_011526291.2:n.*126A>T
NM_000208.4:c.*126A>T MANE Select NP_000199.2:n.*126A>T
NM_001079817.3:c.*126A>T NP_001073285.1:n.*126A>T