Canonical Allele Identifier: CA2527002919

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745475_8745476insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG , CM000665.2:g.8745475_8745476insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	GRCh38
NC_000003.11:g.8787161_8787162insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG , CM000665.1:g.8787161_8787162insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	GRCh37
NC_000003.10:g.8762161_8762162insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	NCBI36
NG_008797.2:g.16666_16667insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG , LRG_329:g.16666_16667insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG MANE Select	ENSP00000341940.2:n.115-51_115-50insGGGAA...
ENST00000343849.2:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	ENSP00000341940.2:n.115-51_115-50insGGGAA...
ENST00000397368.2:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	ENSP00000380525.2:n.115-51_115-50insGGGAA...
ENST00000472766.1:n.155+11485_155+11486insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG
NM_001234.4:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	NP_001225.1:n.115-51_115-50insGGGAAGCCTCA...
NM_033337.2:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG , LRG_329t1:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	NP_203123.1:n.115-51_115-50insGGGAAGCCTCA...
NM_001234.5:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG	NP_001225.1:n.115-51_115-50insGGGAAGCCTCA...
NM_033337.3:c.115-51_115-50insGGGAAGCCTCAACTCACAGAAGCCACCCGCTTCTCAAGCTTTTGGGGATTCTGACACATGCACGCACACACCCAAAAGCTTG MANE Select	NP_203123.1:n.115-51_115-50insGGGAAGCCTCA...