Canonical Allele Identifier: CA645509415

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49228318_49228320del , CM000685.2:g.49228318_49228320del	GRCh38
NC_000023.10:g.49084780_49084782del , CM000685.1:g.49084780_49084782del	GRCh37
NC_000023.9:g.48971724_48971726del	NCBI36
NG_009095.2:g.10054_10056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.952_954del MANE Select	ENSP00000321618.6:p.Phe318del
ENST00000323022.9:c.952_954del	ENSP00000321618.5:p.Phe318del
ENST00000376251.5:c.757_759del	ENSP00000365427.1:p.Phe253del
ENST00000376265.2:c.952_954del	ENSP00000365441.2:p.Phe318del
NM_001256789.2:c.952_954del	NP_001243718.1:p.Phe318del
NM_001256790.2:c.757_759del	NP_001243719.1:p.Phe253del
NM_005183.3:c.952_954del	NP_005174.2:p.Phe318del
XM_011543983.1:c.757_759del	XP_011542285.1:p.Phe253del
XM_011543983.2:c.757_759del	XP_011542285.1:p.Phe253del
NM_001256789.3:c.952_954del MANE Select	NP_001243718.1:p.Phe318del
NM_001256790.3:c.757_759del	NP_001243719.1:p.Phe253del
NM_005183.4:c.952_954del	NP_005174.2:p.Phe318del