Canonical Allele Identifier: CA2820835534

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218053_49218054insAC , CM000685.2:g.49218053_49218054insAC	GRCh38
NC_000023.10:g.49074512_49074513insAC , CM000685.1:g.49074512_49074513insAC	GRCh37
NC_000023.9:g.48961456_48961457insAC	NCBI36
NG_009095.2:g.20313_20314insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-49_2929-48insGT MANE Select	ENSP00000321618.6:n.2929-49_2929-48insGT
ENST00000323022.9:c.2929-49_2929-48insGT	ENSP00000321618.5:n.2929-49_2929-48insGT
ENST00000376251.5:c.2767-49_2767-48insGT	ENSP00000365427.1:n.2767-49_2767-48insGT
ENST00000376265.2:c.2962-49_2962-48insGT	ENSP00000365441.2:n.2962-49_2962-48insGT
NM_001256789.2:c.2929-49_2929-48insGT	NP_001243718.1:n.2929-49_2929-48insGT
NM_001256790.2:c.2767-49_2767-48insGT	NP_001243719.1:n.2767-49_2767-48insGT
NM_005183.3:c.2962-49_2962-48insGT	NP_005174.2:n.2962-49_2962-48insGT
XM_011543983.1:c.2767-49_2767-48insGT	XP_011542285.1:n.2767-49_2767-48insGT
XM_011543983.2:c.2767-49_2767-48insGT	XP_011542285.1:n.2767-49_2767-48insGT
XM_017029836.1:c.196-49_196-48insGT	XP_016885325.1:n.196-49_196-48insGT
NM_001256789.3:c.2929-49_2929-48insGT MANE Select	NP_001243718.1:n.2929-49_2929-48insGT
NM_001256790.3:c.2767-49_2767-48insGT	NP_001243719.1:n.2767-49_2767-48insGT
NM_005183.4:c.2962-49_2962-48insGT	NP_005174.2:n.2962-49_2962-48insGT