Canonical Allele Identifier: CA658799109

Gene: INSR

Linked Data

• ClinVar Variation Id: 504475
• ClinVar RCV Id: RCV000599407
• dbSNP Id: rs1555735951

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7126585_7126594delinsCTTCC , CM000681.2:g.7126585_7126594delinsCTTCC	GRCh38
NC_000019.9:g.7126596_7126605delinsCTTCC , CM000681.1:g.7126596_7126605delinsCTTCC	GRCh37
NC_000019.8:g.7077596_7077605delinsCTTCC	NCBI36
NG_008852.2:g.172407_172416delinsGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3003_3012delinsGGAAG MANE Select	ENSP00000303830.4:p.Ser1001ArgfsTer?
ENST00000302850.9:c.3003_3012delinsGGAAG	ENSP00000303830.4:p.Ser1001ArgfsTer?
ENST00000341500.9:c.2967_2976delinsGGAAG	ENSP00000342838.4:p.Ser989ArgfsTer?
NM_000208.2:c.3003_3012delinsGGAAG	NP_000199.2:p.Ser1001ArgfsTer?
NM_000208.3:c.3003_3012delinsGGAAG	NP_000199.2:p.Ser1001ArgfsTer?
NM_001079817.1:c.2967_2976delinsGGAAG	NP_001073285.1:p.Ser989ArgfsTer?
NM_001079817.2:c.2967_2976delinsGGAAG	NP_001073285.1:p.Ser989ArgfsTer?
XM_011527988.1:c.3078_3087delinsGGAAG	XP_011526290.1:p.Ser1026ArgfsTer?
XM_011527989.1:c.3042_3051delinsGGAAG	XP_011526291.1:p.Ser1014ArgfsTer?
XM_011527988.2:c.3000_3009delinsGGAAG	XP_011526290.2:p.Ser1000ArgfsTer?
XM_011527989.3:c.2964_2973delinsGGAAG	XP_011526291.2:p.Ser988ArgfsTer?
NM_000208.4:c.3003_3012delinsGGAAG MANE Select	NP_000199.2:p.Ser1001ArgfsTer?
NM_001079817.3:c.2967_2976delinsGGAAG	NP_001073285.1:p.Ser989ArgfsTer?