Canonical Allele Identifier: CA9136041

Gene: INSR

Linked Data

• ClinVar Variation Id: 435512
• ClinVar RCV Id: RCV000500671 ; RCV000879333
• dbSNP Id: rs3835070
• ExAC: 19:7184651 GGAGA / G
• gnomAD v2: 19-7184651-GGAGA-G
• gnomAD v3: 19-7184640-GGAGA-G
• gnomAD v4: 19-7184640-GGAGA-G
• MyVariant Identifiers: chr19:g.7184652_7184655del (hg19) ; chr19:g.7184641_7184644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184658_7184661del , CM000681.2:g.7184658_7184661del	GRCh38
NC_000019.9:g.7184669_7184672del , CM000681.1:g.7184669_7184672del	GRCh37
NC_000019.8:g.7135669_7135672del	NCBI36
NG_008852.2:g.114357_114360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.653-7_653-4del MANE Select	ENSP00000303830.4:n.653-7_653-4del
ENST00000302850.9:c.653-7_653-4del	ENSP00000303830.4:n.653-7_653-4del
ENST00000341500.9:c.653-7_653-4del	ENSP00000342838.4:n.653-7_653-4del
ENST00000598216.1:n.628-7_628-4del
NM_000208.2:c.653-7_653-4del	NP_000199.2:n.653-7_653-4del
NM_000208.3:c.653-7_653-4del	NP_000199.2:n.653-7_653-4del
NM_001079817.1:c.653-7_653-4del	NP_001073285.1:n.653-7_653-4del
NM_001079817.2:c.653-7_653-4del	NP_001073285.1:n.653-7_653-4del
XM_011527988.1:c.731-7_731-4del	XP_011526290.1:n.731-7_731-4del
XM_011527989.1:c.731-7_731-4del	XP_011526291.1:n.731-7_731-4del
XM_011527988.2:c.653-7_653-4del	XP_011526290.2:n.653-7_653-4del
XM_011527989.3:c.653-7_653-4del	XP_011526291.2:n.653-7_653-4del
NM_000208.4:c.653-7_653-4del MANE Select	NP_000199.2:n.653-7_653-4del
NM_001079817.3:c.653-7_653-4del	NP_001073285.1:n.653-7_653-4del