Canonical Allele Identifier: CA2842013693

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218493_49218494del , CM000685.2:g.49218493_49218494del	GRCh38
NC_000023.10:g.49074952_49074953del , CM000685.1:g.49074952_49074953del	GRCh37
NC_000023.9:g.48961896_48961897del	NCBI36
NG_009095.2:g.19874_19875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2890_2891del MANE Select	ENSP00000321618.6:p.Arg964AlafsTer?
ENST00000323022.9:c.2890_2891del	ENSP00000321618.5:p.Arg964AlafsTer?
ENST00000376251.5:c.2728_2729del	ENSP00000365427.1:p.Arg910AlafsTer?
ENST00000376265.2:c.2923_2924del	ENSP00000365441.2:p.Arg975AlafsTer?
NM_001256789.2:c.2890_2891del	NP_001243718.1:p.Arg964AlafsTer?
NM_001256790.2:c.2728_2729del	NP_001243719.1:p.Arg910AlafsTer?
NM_005183.3:c.2923_2924del	NP_005174.2:p.Arg975AlafsTer?
XM_011543983.1:c.2728_2729del	XP_011542285.1:p.Arg910AlafsTer?
XM_011543983.2:c.2728_2729del	XP_011542285.1:p.Arg910AlafsTer?
XM_017029836.1:c.157_158del	XP_016885325.1:p.Arg53AlafsTer?
NM_001256789.3:c.2890_2891del MANE Select	NP_001243718.1:p.Arg964AlafsTer?
NM_001256790.3:c.2728_2729del	NP_001243719.1:p.Arg910AlafsTer?
NM_005183.4:c.2923_2924del	NP_005174.2:p.Arg975AlafsTer?