Canonical Allele Identifier: CA1344405727

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745479_8745495delinsAGCGGGTGGCTTCTGTG , CM000665.2:g.8745479_8745495delinsAGCGGGTGGCTTCTGTG	GRCh38
NC_000003.11:g.8787165_8787181delinsAGCGGGTGGCTTCTGTG , CM000665.1:g.8787165_8787181delinsAGCGGGTGGCTTCTGTG	GRCh37
NC_000003.10:g.8762165_8762181delinsAGCGGGTGGCTTCTGTG	NCBI36
NG_008797.2:g.16670_16686delinsAGCGGGTGGCTTCTGTG , LRG_329:g.16670_16686delinsAGCGGGTGGCTTCTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG MANE Select	ENSP00000341940.2:n.115-47_115-31delinsAG...
ENST00000343849.2:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG	ENSP00000341940.2:n.115-47_115-31delinsAG...
ENST00000397368.2:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG	ENSP00000380525.2:n.115-47_115-31delinsAG...
ENST00000472766.1:n.155+11489_155+11505delinsAGCGGGTGGCTTCTGTG
NM_001234.4:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG	NP_001225.1:n.115-47_115-31delinsAGCGGGTG...
NM_033337.2:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG , LRG_329t1:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG	NP_203123.1:n.115-47_115-31delinsAGCGGGTG...
NM_001234.5:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG	NP_001225.1:n.115-47_115-31delinsAGCGGGTG...
NM_033337.3:c.115-47_115-31delinsAGCGGGTGGCTTCTGTG MANE Select	NP_203123.1:n.115-47_115-31delinsAGCGGGTG...