Canonical Allele Identifier: CA165435200

Gene: CAV1

Linked Data

• dbSNP Id: rs111568474
• MyVariant Identifiers: chr7:g.116165263_116165268del (hg19) ; chr7:g.116525209_116525214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525209_116525214del , CM000669.2:g.116525209_116525214del	GRCh38
NC_000007.13:g.116165263_116165268del , CM000669.1:g.116165263_116165268del	GRCh37
NC_000007.12:g.115952499_115952504del	NCBI36
NG_012051.1:g.5425_5430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+117_30+122del MANE Select	ENSP00000339191.2:n.30+117_30+122del
ENST00000614113.5:c.30+117_30+122del	ENSP00000479447.2:n.30+117_30+122del
ENST00000341049.6:c.30+117_30+122del	ENSP00000339191.2:n.30+117_30+122del
ENST00000393470.1:c.30+117_30+122del	ENSP00000377113.1:n.30+117_30+122del
ENST00000451122.5:c.147_152del	ENSP00000409541.1:p.Thr50_Pro51del
ENST00000489856.1:n.81+117_81+122del
ENST00000614113.4:c.-660_-655del	ENSP00000479447.1:n.-660_-655del
NM_001172895.1:c.-660_-655del	NP_001166366.1:n.-660_-655del
NM_001753.4:c.30+117_30+122del	NP_001744.2:n.30+117_30+122del
NM_001753.5:c.30+117_30+122del MANE Select	NP_001744.2:n.30+117_30+122del