Canonical Allele Identifier: CA2320796348
Community Standard Title: NM_000208.4(INSR):c.698T= (p.Leu233=)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184592A= , CM000681.2:g.7184592A= GRCh38
NC_000019.9:g.7184603A= , CM000681.1:g.7184603A= GRCh37
NC_000019.8:g.7135603A= NCBI36
NG_008852.2:g.114409T=

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.698T= MANE Select NP_000199.2:p.Leu233=
ENST00000302850.10:c.698T= MANE Select ENSP00000303830.4:p.Leu233=
NM_000208.2:c.698T= NP_000199.2:p.Leu233=
NM_000208.3:c.698T= NP_000199.2:p.Leu233=
NM_001079817.1:c.698T= NP_001073285.1:p.Leu233=
NM_001079817.2:c.698T= NP_001073285.1:p.Leu233=
NM_001079817.3:c.698T= NP_001073285.1:p.Leu233=
ENST00000302850.9:c.698T= ENSP00000303830.4:p.Leu233=
ENST00000341500.9:c.698T= ENSP00000342838.4:p.Leu233=
ENST00000598216.1:n.673T=
XM_011527988.1:c.776T= XP_011526290.1:p.Leu259=
XM_011527988.2:c.698T= XP_011526290.2:p.Leu233=
XM_011527989.1:c.776T= XP_011526291.1:p.Leu259=
XM_011527989.3:c.698T= XP_011526291.2:p.Leu233=