Canonical Allele Identifier: CA2695233571

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217959_49217961del , CM000685.2:g.49217959_49217961del	GRCh38
NC_000023.10:g.49074418_49074420del , CM000685.1:g.49074418_49074420del	GRCh37
NC_000023.9:g.48961362_48961364del	NCBI36
NG_009095.2:g.20409_20411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2976_2978del MANE Select	ENSP00000321618.6:p.Ile992del
ENST00000323022.9:c.2976_2978del	ENSP00000321618.5:p.Ile992del
ENST00000376251.5:c.2814_2816del	ENSP00000365427.1:p.Ile938del
ENST00000376265.2:c.3009_3011del	ENSP00000365441.2:p.Ile1003del
NM_001256789.2:c.2976_2978del	NP_001243718.1:p.Ile992del
NM_001256790.2:c.2814_2816del	NP_001243719.1:p.Ile938del
NM_005183.3:c.3009_3011del	NP_005174.2:p.Ile1003del
XM_011543983.1:c.2814_2816del	XP_011542285.1:p.Ile938del
XM_011543983.2:c.2814_2816del	XP_011542285.1:p.Ile938del
XM_017029836.1:c.243_245del	XP_016885325.1:p.Ile81del
NM_001256789.3:c.2976_2978del MANE Select	NP_001243718.1:p.Ile992del
NM_001256790.3:c.2814_2816del	NP_001243719.1:p.Ile938del
NM_005183.4:c.3009_3011del	NP_005174.2:p.Ile1003del