Canonical Allele Identifier: CA2684555629

Gene: CAV1

Linked Data

• gnomAD v4: 7-116525210-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525214_116525216del , CM000669.2:g.116525214_116525216del	GRCh38
NC_000007.13:g.116165268_116165270del , CM000669.1:g.116165268_116165270del	GRCh37
NC_000007.12:g.115952504_115952506del	NCBI36
NG_012051.1:g.5430_5432del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.30+122_30+124del MANE Select	ENSP00000339191.2:n.30+122_30+124del
ENST00000614113.5:c.30+122_30+124del	ENSP00000479447.2:n.30+122_30+124del
ENST00000341049.6:c.30+122_30+124del	ENSP00000339191.2:n.30+122_30+124del
ENST00000393470.1:c.30+122_30+124del	ENSP00000377113.1:n.30+122_30+124del
ENST00000451122.5:c.152_154del	ENSP00000409541.1:p.Pro51del
ENST00000489856.1:n.81+122_81+124del
ENST00000614113.4:c.-655_-653del	ENSP00000479447.1:n.-655_-653del
NM_001172895.1:c.-655_-653del	NP_001166366.1:n.-655_-653del
NM_001753.4:c.30+122_30+124del	NP_001744.2:n.30+122_30+124del
NM_001753.5:c.30+122_30+124del MANE Select	NP_001744.2:n.30+122_30+124del