Canonical Allele Identifier: CA2820835526

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218008_49218009insACAA , CM000685.2:g.49218008_49218009insACAA	GRCh38
NC_000023.10:g.49074467_49074468insACAA , CM000685.1:g.49074467_49074468insACAA	GRCh37
NC_000023.9:g.48961411_48961412insACAA	NCBI36
NG_009095.2:g.20358_20359insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-4_2929-3insTTGT MANE Select	ENSP00000321618.6:n.2929-4_2929-3insTTGT
ENST00000323022.9:c.2929-4_2929-3insTTGT	ENSP00000321618.5:n.2929-4_2929-3insTTGT
ENST00000376251.5:c.2767-4_2767-3insTTGT	ENSP00000365427.1:n.2767-4_2767-3insTTGT
ENST00000376265.2:c.2962-4_2962-3insTTGT	ENSP00000365441.2:n.2962-4_2962-3insTTGT
NM_001256789.2:c.2929-4_2929-3insTTGT	NP_001243718.1:n.2929-4_2929-3insTTGT
NM_001256790.2:c.2767-4_2767-3insTTGT	NP_001243719.1:n.2767-4_2767-3insTTGT
NM_005183.3:c.2962-4_2962-3insTTGT	NP_005174.2:n.2962-4_2962-3insTTGT
XM_011543983.1:c.2767-4_2767-3insTTGT	XP_011542285.1:n.2767-4_2767-3insTTGT
XM_011543983.2:c.2767-4_2767-3insTTGT	XP_011542285.1:n.2767-4_2767-3insTTGT
XM_017029836.1:c.196-4_196-3insTTGT	XP_016885325.1:n.196-4_196-3insTTGT
NM_001256789.3:c.2929-4_2929-3insTTGT MANE Select	NP_001243718.1:n.2929-4_2929-3insTTGT
NM_001256790.3:c.2767-4_2767-3insTTGT	NP_001243719.1:n.2767-4_2767-3insTTGT
NM_005183.4:c.2962-4_2962-3insTTGT	NP_005174.2:n.2962-4_2962-3insTTGT