Canonical Allele Identifier: CA10649238

Gene: INSR

Linked Data

• ClinVar Variation Id: 330432
• ClinVar RCV Id: RCV000263708 ; RCV000316595 ; RCV000374599
• dbSNP Id: rs886054684
• gnomAD v3: 19-7116766-GT-G
• gnomAD v4: 19-7116766-GT-G
• MyVariant Identifiers: chr19:g.7116778del (hg19) ; chr19:g.7116767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7116767del , CM000681.2:g.7116767del	GRCh38
NC_000019.9:g.7116778del , CM000681.1:g.7116778del	GRCh37
NC_000019.8:g.7067778del	NCBI36
NG_008852.2:g.182234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*289del MANE Select	ENSP00000303830.4:n.*289del
ENST00000302850.9:c.*289del	ENSP00000303830.4:n.*289del
ENST00000341500.9:c.*289del	ENSP00000342838.4:n.*289del
NM_000208.2:c.*289del	NP_000199.2:n.*289del
NM_000208.3:c.*289del	NP_000199.2:n.*289del
NM_001079817.1:c.*289del	NP_001073285.1:n.*289del
NM_001079817.2:c.*289del	NP_001073285.1:n.*289del
XM_011527988.1:c.*289del	XP_011526290.1:n.*289del
XM_011527989.1:c.*289del	XP_011526291.1:n.*289del
XM_011527988.2:c.*289del	XP_011526290.2:n.*289del
XM_011527989.3:c.*289del	XP_011526291.2:n.*289del
NM_000208.4:c.*289del MANE Select	NP_000199.2:n.*289del
NM_001079817.3:c.*289del	NP_001073285.1:n.*289del