Canonical Allele Identifier: CA1344396305

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733819_8733825delinsTCAGCCC , CM000665.2:g.8733819_8733825delinsTCAGCCC	GRCh38
NC_000003.11:g.8775505_8775511delinsTCAGCCC , CM000665.1:g.8775505_8775511delinsTCAGCCC	GRCh37
NC_000003.10:g.8750505_8750511delinsTCAGCCC	NCBI36
NG_008797.2:g.5010_5016delinsTCAGCCC , LRG_329:g.5010_5016delinsTCAGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-58_-52delinsTCAGCCC (CAV3) MANE Select	ENSP00000341940.2:n.-58_-52delinsTCAGCCC
ENST00000343849.2:c.-58_-52delinsTCAGCCC (CAV3)	ENSP00000341940.2:n.-58_-52delinsTCAGCCC
ENST00000435138.5:c.64+8634_64+8640delinsGGGCTGA (SSUH2)	ENSP00000412333.1:n.64+8634_64+8640delins...
ENST00000478513.1:n.335+8634_335+8640delinsGGGCTGA (SSUH2)
NM_001234.4:c.-58_-52delinsTCAGCCC (CAV3)	NP_001225.1:n.-58_-52delinsTCAGCCC
NM_033337.2:c.-58_-52delinsTCAGCCC , LRG_329t1:c.-58_-52delinsTCAGCCC (CAV3)	NP_203123.1:n.-58_-52delinsTCAGCCC
XR_940435.1:n.330+8634_330+8640delinsGGGCTGA (SSUH2)
XM_017006530.1:c.-283+8634_-283+8640delinsGGGCTGA (SSUH2)	XP_016862019.1:n.-283+8634_-283+8640delin...
NM_001234.5:c.-58_-52delinsTCAGCCC (CAV3)	NP_001225.1:n.-58_-52delinsTCAGCCC
NM_033337.3:c.-58_-52delinsTCAGCCC (CAV3) MANE Select	NP_203123.1:n.-58_-52delinsTCAGCCC