Canonical Allele Identifier: CA505481831
Community Standard Title: NM_000208.4(INSR):c.438C>T (p.Ile146=)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7267559G>A , CM000681.2:g.7267559G>A GRCh38
NC_000019.9:g.7267570G>A , CM000681.1:g.7267570G>A GRCh37
NC_000019.8:g.7218570G>A NCBI36
NG_008852.2:g.31442C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.438C>T MANE Select NP_000199.2:p.Ile146=
ENST00000302850.10:c.438C>T MANE Select ENSP00000303830.4:p.Ile146=
NM_000208.2:c.438C>T NP_000199.2:p.Ile146=
NM_000208.3:c.438C>T NP_000199.2:p.Ile146=
NM_001079817.1:c.438C>T NP_001073285.1:p.Ile146=
NM_001079817.2:c.438C>T NP_001073285.1:p.Ile146=
NM_001079817.3:c.438C>T NP_001073285.1:p.Ile146=
ENST00000302850.9:c.438C>T ENSP00000303830.4:p.Ile146=
ENST00000341500.9:c.438C>T ENSP00000342838.4:p.Ile146=
ENST00000598216.1:n.413C>T
XM_011527988.1:c.516C>T XP_011526290.1:p.Ile172=
XM_011527988.2:c.438C>T XP_011526290.2:p.Ile146=
XM_011527989.1:c.516C>T XP_011526291.1:p.Ile172=
XM_011527989.3:c.438C>T XP_011526291.2:p.Ile146=