Canonical Allele Identifier: CA2587922575
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7129074-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7129074T>A , CM000681.2:g.7129074T>A GRCh38
NC_000019.9:g.7129085T>A , CM000681.1:g.7129085T>A GRCh37
NC_000019.8:g.7080085T>A NCBI36
NG_008852.2:g.169927A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2843-120A>T MANE Select ENSP00000303830.4:n.2843-120A>T
ENST00000302850.9:c.2843-120A>T ENSP00000303830.4:n.2843-120A>T
ENST00000341500.9:c.2807-120A>T ENSP00000342838.4:n.2807-120A>T
NM_000208.2:c.2843-120A>T NP_000199.2:n.2843-120A>T
NM_000208.3:c.2843-120A>T NP_000199.2:n.2843-120A>T
NM_001079817.1:c.2807-120A>T NP_001073285.1:n.2807-120A>T
NM_001079817.2:c.2807-120A>T NP_001073285.1:n.2807-120A>T
XM_011527988.1:c.2921-123A>T XP_011526290.1:n.2921-123A>T
XM_011527989.1:c.2885-123A>T XP_011526291.1:n.2885-123A>T
XM_011527988.2:c.2843-123A>T XP_011526290.2:n.2843-123A>T
XM_011527989.3:c.2807-123A>T XP_011526291.2:n.2807-123A>T
NM_000208.4:c.2843-120A>T MANE Select NP_000199.2:n.2843-120A>T
NM_001079817.3:c.2807-120A>T NP_001073285.1:n.2807-120A>T