Canonical Allele Identifier: CA2587925790

Gene: INSR

Linked Data

• gnomAD v4: 19-7172378-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172381del , CM000681.2:g.7172381del	GRCh38
NC_000019.9:g.7172392del , CM000681.1:g.7172392del	GRCh37
NC_000019.8:g.7123392del	NCBI36
NG_008852.2:g.126622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1179del MANE Select	ENSP00000303830.4:p.Tyr394IlefsTer2
ENST00000302850.9:c.1179del	ENSP00000303830.4:p.Tyr394IlefsTer2
ENST00000341500.9:c.1179del	ENSP00000342838.4:p.Tyr394IlefsTer2
ENST00000598216.1:n.1154del
NM_000208.2:c.1179del	NP_000199.2:p.Tyr394IlefsTer2
NM_000208.3:c.1179del	NP_000199.2:p.Tyr394IlefsTer2
NM_001079817.1:c.1179del	NP_001073285.1:p.Tyr394IlefsTer2
NM_001079817.2:c.1179del	NP_001073285.1:p.Tyr394IlefsTer2
XM_011527988.1:c.1257del	XP_011526290.1:p.Tyr420IlefsTer2
XM_011527989.1:c.1257del	XP_011526291.1:p.Tyr420IlefsTer2
XM_011527988.2:c.1179del	XP_011526290.2:p.Tyr394IlefsTer2
XM_011527989.3:c.1179del	XP_011526291.2:p.Tyr394IlefsTer2
NM_000208.4:c.1179del MANE Select	NP_000199.2:p.Tyr394IlefsTer2
NM_001079817.3:c.1179del	NP_001073285.1:p.Tyr394IlefsTer2