Canonical Allele Identifier: CA1736921235
Gene: CAV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116557252_116557274delinsTACAAAATAAACTTTAAAAATTG , CM000669.2:g.116557252_116557274delinsTACAAAATAAACTTTAAAAATTG GRCh38
NC_000007.13:g.116197306_116197328delinsTACAAAATAAACTTTAAAAATTG , CM000669.1:g.116197306_116197328delinsTACAAAATAAACTTTAAAAATTG GRCh37
NC_000007.12:g.115984542_115984564delinsTACAAAATAAACTTTAAAAATTG NCBI36
NG_012051.1:g.37468_37490delinsTACAAAATAAACTTTAAAAATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341049.7:c.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG MANE Select ENSP00000339191.2:n.196-1694_196-1672delinsTACAAAATAAACTTTAAA...
ENST00000405348.6:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000384348.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
ENST00000614113.5:c.*26-1694_*26-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000479447.2:n.*26-1694_*26-1672delinsTACAAAATAAACTTTAAA...
ENST00000341049.6:c.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000339191.2:n.196-1694_196-1672delinsTACAAAATAAACTTTAAA...
ENST00000393467.1:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000377110.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
ENST00000393468.1:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000377111.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
ENST00000393470.1:c.163-1694_163-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000377113.1:n.163-1694_163-1672delinsTACAAAATAAACTTTAAA...
ENST00000405348.5:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000384348.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
ENST00000451122.5:c.*648-1694_*648-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000409541.1:n.*648-1694_*648-1672delinsTACAAAATAAACTTTA...
ENST00000456473.5:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000389033.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
ENST00000614113.4:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG ENSP00000479447.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAA...
NM_001172895.1:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG NP_001166366.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAAAAT...
NM_001172896.1:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG NP_001166367.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAAAAT...
NM_001172897.1:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG NP_001166368.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAAAAT...
NM_001753.4:c.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG NP_001744.2:n.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG
NM_001753.5:c.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG MANE Select NP_001744.2:n.196-1694_196-1672delinsTACAAAATAAACTTTAAAAATTG
NM_001172896.2:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG NP_001166367.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAAAAT...
NM_001172897.2:c.103-1694_103-1672delinsTACAAAATAAACTTTAAAAATTG NP_001166368.1:n.103-1694_103-1672delinsTACAAAATAAACTTTAAAAAT...