Canonical Allele Identifier: CA1344405950

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745856_8745859delinsAAGG , CM000665.2:g.8745856_8745859delinsAAGG	GRCh38
NC_000003.11:g.8787542_8787545delinsAAGG , CM000665.1:g.8787542_8787545delinsAAGG	GRCh37
NC_000003.10:g.8762542_8762545delinsAAGG	NCBI36
NG_008797.2:g.17047_17050delinsAAGG , LRG_329:g.17047_17050delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.445_448delinsAAGG MANE Select	ENSP00000341940.2:p.Lys149=
ENST00000343849.2:c.445_448delinsAAGG	ENSP00000341940.2:p.Lys149=
ENST00000397368.2:c.445_448delinsAAGG	ENSP00000380525.2:p.Lys149=
ENST00000472766.1:n.155+11866_155+11869delinsAAGG
NM_001234.4:c.445_448delinsAAGG	NP_001225.1:p.Lys149=
NM_033337.2:c.445_448delinsAAGG , LRG_329t1:c.445_448delinsAAGG	NP_203123.1:p.Lys149=
NM_001234.5:c.445_448delinsAAGG	NP_001225.1:p.Lys149=
NM_033337.3:c.445_448delinsAAGG MANE Select	NP_203123.1:p.Lys149=