Canonical Allele Identifier: CA1344405864

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745698_8745701delinsCCTT , CM000665.2:g.8745698_8745701delinsCCTT	GRCh38
NC_000003.11:g.8787384_8787387delinsCCTT , CM000665.1:g.8787384_8787387delinsCCTT	GRCh37
NC_000003.10:g.8762384_8762387delinsCCTT	NCBI36
NG_008797.2:g.16889_16892delinsCCTT , LRG_329:g.16889_16892delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.287_290delinsCCTT MANE Select	ENSP00000341940.2:p.Ser96=
ENST00000343849.2:c.287_290delinsCCTT	ENSP00000341940.2:p.Ser96=
ENST00000397368.2:c.287_290delinsCCTT	ENSP00000380525.2:p.Ser96=
ENST00000472766.1:n.155+11708_155+11711delinsCCTT
NM_001234.4:c.287_290delinsCCTT	NP_001225.1:p.Ser96=
NM_033337.2:c.287_290delinsCCTT , LRG_329t1:c.287_290delinsCCTT	NP_203123.1:p.Ser96=
NM_001234.5:c.287_290delinsCCTT	NP_001225.1:p.Ser96=
NM_033337.3:c.287_290delinsCCTT MANE Select	NP_203123.1:p.Ser96=