Canonical Allele Identifier: CA1344405724

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745478_8745495delinsAAGCGGGTGGCTTCTGTG , CM000665.2:g.8745478_8745495delinsAAGCGGGTGGCTTCTGTG	GRCh38
NC_000003.11:g.8787164_8787181delinsAAGCGGGTGGCTTCTGTG , CM000665.1:g.8787164_8787181delinsAAGCGGGTGGCTTCTGTG	GRCh37
NC_000003.10:g.8762164_8762181delinsAAGCGGGTGGCTTCTGTG	NCBI36
NG_008797.2:g.16669_16686delinsAAGCGGGTGGCTTCTGTG , LRG_329:g.16669_16686delinsAAGCGGGTGGCTTCTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG MANE Select	ENSP00000341940.2:n.115-48_115-31delinsAA...
ENST00000343849.2:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG	ENSP00000341940.2:n.115-48_115-31delinsAA...
ENST00000397368.2:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG	ENSP00000380525.2:n.115-48_115-31delinsAA...
ENST00000472766.1:n.155+11488_155+11505delinsAAGCGGGTGGCTTCTGTG
NM_001234.4:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG	NP_001225.1:n.115-48_115-31delinsAAGCGGGT...
NM_033337.2:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG , LRG_329t1:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG	NP_203123.1:n.115-48_115-31delinsAAGCGGGT...
NM_001234.5:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG	NP_001225.1:n.115-48_115-31delinsAAGCGGGT...
NM_033337.3:c.115-48_115-31delinsAAGCGGGTGGCTTCTGTG MANE Select	NP_203123.1:n.115-48_115-31delinsAAGCGGGT...