Canonical Allele Identifier: CA2502169267

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116542745_116542746insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG , CM000669.2:g.116542745_116542746insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	GRCh38
NC_000007.13:g.116182799_116182800insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG , CM000669.1:g.116182799_116182800insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	GRCh37
NC_000007.12:g.115970035_115970036insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NCBI36
NG_012051.1:g.22961_22962insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG MANE Select	ENSP00000339191.2:n.195+16056_195+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000405348.6:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000384348.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000614113.5:c.*25+16056_*25+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000479447.2:n.*25+16056_*25+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000341049.6:c.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000339191.2:n.195+16056_195+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000393467.1:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000377110.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000393468.1:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000377111.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000393470.1:c.162+16056_162+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000377113.1:n.162+16056_162+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000405348.5:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000384348.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000451122.5:c.*647+16056_*647+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000409541.1:n.*647+16056_*647+16057insTTCCTTTGCCTGTTTTG...
ENST00000456473.5:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000389033.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
ENST00000614113.4:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	ENSP00000479447.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCC...
NM_001172895.1:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001166366.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTT...
NM_001172896.1:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001166367.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTT...
NM_001172897.1:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001166368.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTT...
NM_001753.4:c.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001744.2:n.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCT...
NM_001753.5:c.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG MANE Select	NP_001744.2:n.195+16056_195+16057insTTCCTTTGCCTGTTTTGCCTTTCCT...
NM_001172896.2:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001166367.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTT...
NM_001172897.2:c.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTTCCTTTGCCTGTTTTTCCTTTGCCTGTTTTTGGGAAG	NP_001166368.1:n.102+16056_102+16057insTTCCTTTGCCTGTTTTGCCTTT...