Canonical Allele Identifier: CA1344403919

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741745_8741764delinsGGGGAGGTATTTTCGACCCC , CM000665.2:g.8741745_8741764delinsGGGGAGGTATTTTCGACCCC	GRCh38
NC_000003.11:g.8783431_8783450delinsGGGGAGGTATTTTCGACCCC , CM000665.1:g.8783431_8783450delinsGGGGAGGTATTTTCGACCCC	GRCh37
NC_000003.10:g.8758431_8758450delinsGGGGAGGTATTTTCGACCCC	NCBI36
NG_008797.2:g.12936_12955delinsGGGGAGGTATTTTCGACCCC , LRG_329:g.12936_12955delinsGGGGAGGTATTTTCGACCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3) MANE Select	ENSP00000341940.2:n.115-3781_115-3762deli...
ENST00000343849.2:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3)	ENSP00000341940.2:n.115-3781_115-3762deli...
ENST00000397368.2:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3)	ENSP00000380525.2:n.115-3781_115-3762deli...
ENST00000435138.5:c.64+695_64+714delinsGGGGTCGAAAATACCTCCCC (SSUH2)	ENSP00000412333.1:n.64+695_64+714delinsGG...
ENST00000472766.1:n.155+7755_155+7774delinsGGGGAGGTATTTTCGACCCC (CAV3)
ENST00000478513.1:n.335+695_335+714delinsGGGGTCGAAAATACCTCCCC (SSUH2)
NM_001234.4:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3)	NP_001225.1:n.115-3781_115-3762delinsGGGG...
NM_033337.2:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC , LRG_329t1:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3)	NP_203123.1:n.115-3781_115-3762delinsGGGG...
XR_940435.1:n.330+695_330+714delinsGGGGTCGAAAATACCTCCCC (SSUH2)
XM_017006530.1:c.-283+695_-283+714delinsGGGGTCGAAAATACCTCCCC (SSUH2)	XP_016862019.1:n.-283+695_-283+714delinsG...
NM_001234.5:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3)	NP_001225.1:n.115-3781_115-3762delinsGGGG...
NM_033337.3:c.115-3781_115-3762delinsGGGGAGGTATTTTCGACCCC (CAV3) MANE Select	NP_203123.1:n.115-3781_115-3762delinsGGGG...