Canonical Allele Identifier: CA2820835160

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216604_49216608del , CM000685.2:g.49216604_49216608del	GRCh38
NC_000023.10:g.49073064_49073068del , CM000685.1:g.49073064_49073068del	GRCh37
NC_000023.9:g.48960008_48960012del	NCBI36
NG_009095.2:g.21759_21763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3090-80_3090-76del MANE Select	ENSP00000321618.6:n.3090-80_3090-76del
ENST00000323022.9:c.3090-80_3090-76del	ENSP00000321618.5:n.3090-80_3090-76del
ENST00000376251.5:c.2928-80_2928-76del	ENSP00000365427.1:n.2928-80_2928-76del
ENST00000376265.2:c.3123-80_3123-76del	ENSP00000365441.2:n.3123-80_3123-76del
NM_001256789.2:c.3090-80_3090-76del	NP_001243718.1:n.3090-80_3090-76del
NM_001256790.2:c.2928-80_2928-76del	NP_001243719.1:n.2928-80_2928-76del
NM_005183.3:c.3123-80_3123-76del	NP_005174.2:n.3123-80_3123-76del
XM_011543983.1:c.2928-80_2928-76del	XP_011542285.1:n.2928-80_2928-76del
XM_011543983.2:c.2928-80_2928-76del	XP_011542285.1:n.2928-80_2928-76del
XM_017029836.1:c.357-80_357-76del	XP_016885325.1:n.357-80_357-76del
NM_001256789.3:c.3090-80_3090-76del MANE Select	NP_001243718.1:n.3090-80_3090-76del
NM_001256790.3:c.2928-80_2928-76del	NP_001243719.1:n.2928-80_2928-76del
NM_005183.4:c.3123-80_3123-76del	NP_005174.2:n.3123-80_3123-76del