Canonical Allele Identifier: CA2539249852

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218586_49218587insTT , CM000685.2:g.49218586_49218587insTT	GRCh38
NC_000023.10:g.49075045_49075046insTT , CM000685.1:g.49075045_49075046insTT	GRCh37
NC_000023.9:g.48961989_48961990insTT	NCBI36
NG_009095.2:g.19781_19782insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2841-44_2841-43insAA MANE Select	ENSP00000321618.6:n.2841-44_2841-43insAA
ENST00000323022.9:c.2841-44_2841-43insAA	ENSP00000321618.5:n.2841-44_2841-43insAA
ENST00000376251.5:c.2679-44_2679-43insAA	ENSP00000365427.1:n.2679-44_2679-43insAA
ENST00000376265.2:c.2874-44_2874-43insAA	ENSP00000365441.2:n.2874-44_2874-43insAA
NM_001256789.2:c.2841-44_2841-43insAA	NP_001243718.1:n.2841-44_2841-43insAA
NM_001256790.2:c.2679-44_2679-43insAA	NP_001243719.1:n.2679-44_2679-43insAA
NM_005183.3:c.2874-44_2874-43insAA	NP_005174.2:n.2874-44_2874-43insAA
XM_011543983.1:c.2679-44_2679-43insAA	XP_011542285.1:n.2679-44_2679-43insAA
XM_011543983.2:c.2679-44_2679-43insAA	XP_011542285.1:n.2679-44_2679-43insAA
XM_017029836.1:c.108-44_108-43insAA	XP_016885325.1:n.108-44_108-43insAA
NM_001256789.3:c.2841-44_2841-43insAA MANE Select	NP_001243718.1:n.2841-44_2841-43insAA
NM_001256790.3:c.2679-44_2679-43insAA	NP_001243719.1:n.2679-44_2679-43insAA
NM_005183.4:c.2874-44_2874-43insAA	NP_005174.2:n.2874-44_2874-43insAA