Canonical Allele Identifier: CA1736921257

Gene: CAV1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116557269_116557276delinsAAATTGGT , CM000669.2:g.116557269_116557276delinsAAATTGGT	GRCh38
NC_000007.13:g.116197323_116197330delinsAAATTGGT , CM000669.1:g.116197323_116197330delinsAAATTGGT	GRCh37
NC_000007.12:g.115984559_115984566delinsAAATTGGT	NCBI36
NG_012051.1:g.37485_37492delinsAAATTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.196-1677_196-1670delinsAAATTGGT MANE Select	ENSP00000339191.2:n.196-1677_196-1670delinsAAATTGGT
ENST00000405348.6:c.103-1677_103-1670delinsAAATTGGT	ENSP00000384348.1:n.103-1677_103-1670delinsAAATTGGT
ENST00000614113.5:c.*26-1677_*26-1670delinsAAATTGGT	ENSP00000479447.2:n.*26-1677_*26-1670delinsAAATTGGT
ENST00000341049.6:c.196-1677_196-1670delinsAAATTGGT	ENSP00000339191.2:n.196-1677_196-1670delinsAAATTGGT
ENST00000393467.1:c.103-1677_103-1670delinsAAATTGGT	ENSP00000377110.1:n.103-1677_103-1670delinsAAATTGGT
ENST00000393468.1:c.103-1677_103-1670delinsAAATTGGT	ENSP00000377111.1:n.103-1677_103-1670delinsAAATTGGT
ENST00000393470.1:c.163-1677_163-1670delinsAAATTGGT	ENSP00000377113.1:n.163-1677_163-1670delinsAAATTGGT
ENST00000405348.5:c.103-1677_103-1670delinsAAATTGGT	ENSP00000384348.1:n.103-1677_103-1670delinsAAATTGGT
ENST00000451122.5:c.*648-1677_*648-1670delinsAAATTGGT	ENSP00000409541.1:n.*648-1677_*648-1670delinsAAATTGGT
ENST00000456473.5:c.103-1677_103-1670delinsAAATTGGT	ENSP00000389033.1:n.103-1677_103-1670delinsAAATTGGT
ENST00000614113.4:c.103-1677_103-1670delinsAAATTGGT	ENSP00000479447.1:n.103-1677_103-1670delinsAAATTGGT
NM_001172895.1:c.103-1677_103-1670delinsAAATTGGT	NP_001166366.1:n.103-1677_103-1670delinsAAATTGGT
NM_001172896.1:c.103-1677_103-1670delinsAAATTGGT	NP_001166367.1:n.103-1677_103-1670delinsAAATTGGT
NM_001172897.1:c.103-1677_103-1670delinsAAATTGGT	NP_001166368.1:n.103-1677_103-1670delinsAAATTGGT
NM_001753.4:c.196-1677_196-1670delinsAAATTGGT	NP_001744.2:n.196-1677_196-1670delinsAAATTGGT
NM_001753.5:c.196-1677_196-1670delinsAAATTGGT MANE Select	NP_001744.2:n.196-1677_196-1670delinsAAATTGGT
NM_001172896.2:c.103-1677_103-1670delinsAAATTGGT	NP_001166367.1:n.103-1677_103-1670delinsAAATTGGT
NM_001172897.2:c.103-1677_103-1670delinsAAATTGGT	NP_001166368.1:n.103-1677_103-1670delinsAAATTGGT