Canonical Allele Identifier: CA2428540247

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218017_49218018delinsCA , CM000685.2:g.49218017_49218018delinsCA	GRCh38
NC_000023.10:g.49074476_49074477delinsCA , CM000685.1:g.49074476_49074477delinsCA	GRCh37
NC_000023.9:g.48961420_48961421delinsCA	NCBI36
NG_009095.2:g.20349_20350delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929-13_2929-12delinsTG MANE Select	ENSP00000321618.6:n.2929-13_2929-12delinsTG
ENST00000323022.9:c.2929-13_2929-12delinsTG	ENSP00000321618.5:n.2929-13_2929-12delinsTG
ENST00000376251.5:c.2767-13_2767-12delinsTG	ENSP00000365427.1:n.2767-13_2767-12delinsTG
ENST00000376265.2:c.2962-13_2962-12delinsTG	ENSP00000365441.2:n.2962-13_2962-12delinsTG
NM_001256789.2:c.2929-13_2929-12delinsTG	NP_001243718.1:n.2929-13_2929-12delinsTG
NM_001256790.2:c.2767-13_2767-12delinsTG	NP_001243719.1:n.2767-13_2767-12delinsTG
NM_005183.3:c.2962-13_2962-12delinsTG	NP_005174.2:n.2962-13_2962-12delinsTG
XM_011543983.1:c.2767-13_2767-12delinsTG	XP_011542285.1:n.2767-13_2767-12delinsTG
XM_011543983.2:c.2767-13_2767-12delinsTG	XP_011542285.1:n.2767-13_2767-12delinsTG
XM_017029836.1:c.196-13_196-12delinsTG	XP_016885325.1:n.196-13_196-12delinsTG
NM_001256789.3:c.2929-13_2929-12delinsTG MANE Select	NP_001243718.1:n.2929-13_2929-12delinsTG
NM_001256790.3:c.2767-13_2767-12delinsTG	NP_001243719.1:n.2767-13_2767-12delinsTG
NM_005183.4:c.2962-13_2962-12delinsTG	NP_005174.2:n.2962-13_2962-12delinsTG