Canonical Allele Identifier: CA2320764849
Community Standard Title: NM_000208.4(INSR):c.3680G= (p.Trp1227=)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7119563C= , CM000681.2:g.7119563C= GRCh38
NC_000019.9:g.7119574C= , CM000681.1:g.7119574C= GRCh37
NC_000019.8:g.7070574C= NCBI36
NG_008852.2:g.179438G=

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.3680G= MANE Select NP_000199.2:p.Trp1227=
ENST00000302850.10:c.3680G= MANE Select ENSP00000303830.4:p.Trp1227=
NM_000208.2:c.3680G= NP_000199.2:p.Trp1227=
NM_000208.3:c.3680G= NP_000199.2:p.Trp1227=
NM_001079817.1:c.3644G= NP_001073285.1:p.Trp1215=
NM_001079817.2:c.3644G= NP_001073285.1:p.Trp1215=
NM_001079817.3:c.3644G= NP_001073285.1:p.Trp1215=
ENST00000302850.9:c.3680G= ENSP00000303830.4:p.Trp1227=
ENST00000341500.9:c.3644G= ENSP00000342838.4:p.Trp1215=
XM_011527988.1:c.3755G= XP_011526290.1:p.Trp1252=
XM_011527988.2:c.3677G= XP_011526290.2:p.Trp1226=
XM_011527989.1:c.3719G= XP_011526291.1:p.Trp1240=
XM_011527989.3:c.3641G= XP_011526291.2:p.Trp1214=