Canonical Allele Identifier: CA2697556150

Gene: INSR

Linked Data

• ClinVar Variation Id: 2740782
• ClinVar RCV Id: RCV003575869

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7120647_7120648del , CM000681.2:g.7120647_7120648del	GRCh38
NC_000019.9:g.7120658_7120659del , CM000681.1:g.7120658_7120659del	GRCh37
NC_000019.8:g.7071658_7071659del	NCBI36
NG_008852.2:g.178355_178356del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3633_3634del MANE Select	ENSP00000303830.4:p.Val1212LeufsTer6
ENST00000302850.9:c.3633_3634del	ENSP00000303830.4:p.Val1212LeufsTer6
ENST00000341500.9:c.3597_3598del	ENSP00000342838.4:p.Val1200LeufsTer6
ENST00000601099.1:n.544_545del
NM_000208.2:c.3633_3634del	NP_000199.2:p.Val1212LeufsTer6
NM_000208.3:c.3633_3634del	NP_000199.2:p.Val1212LeufsTer6
NM_001079817.1:c.3597_3598del	NP_001073285.1:p.Val1200LeufsTer6
NM_001079817.2:c.3597_3598del	NP_001073285.1:p.Val1200LeufsTer6
XM_011527988.1:c.3708_3709del	XP_011526290.1:p.Val1237LeufsTer6
XM_011527989.1:c.3672_3673del	XP_011526291.1:p.Val1225LeufsTer6
XM_011527988.2:c.3630_3631del	XP_011526290.2:p.Val1211LeufsTer6
XM_011527989.3:c.3594_3595del	XP_011526291.2:p.Val1199LeufsTer6
NM_000208.4:c.3633_3634del MANE Select	NP_000199.2:p.Val1212LeufsTer6
NM_001079817.3:c.3597_3598del	NP_001073285.1:p.Val1200LeufsTer6