Canonical Allele Identifier: CA2428540213

Gene: CACNA1F

Linked Data

• dbSNP Id: rs2065734040

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217892_49217893insT , CM000685.2:g.49217892_49217893insT	GRCh38
NC_000023.10:g.49074351_49074352insT , CM000685.1:g.49074351_49074352insT	GRCh37
NC_000023.9:g.48961295_48961296insT	NCBI36
NG_009095.2:g.20474_20475insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3036+5_3036+6insA MANE Select	ENSP00000321618.6:n.3036+5_3036+6insA
ENST00000323022.9:c.3036+5_3036+6insA	ENSP00000321618.5:n.3036+5_3036+6insA
ENST00000376251.5:c.2874+5_2874+6insA	ENSP00000365427.1:n.2874+5_2874+6insA
ENST00000376265.2:c.3069+5_3069+6insA	ENSP00000365441.2:n.3069+5_3069+6insA
NM_001256789.2:c.3036+5_3036+6insA	NP_001243718.1:n.3036+5_3036+6insA
NM_001256790.2:c.2874+5_2874+6insA	NP_001243719.1:n.2874+5_2874+6insA
NM_005183.3:c.3069+5_3069+6insA	NP_005174.2:n.3069+5_3069+6insA
XM_011543983.1:c.2874+5_2874+6insA	XP_011542285.1:n.2874+5_2874+6insA
XM_011543983.2:c.2874+5_2874+6insA	XP_011542285.1:n.2874+5_2874+6insA
XM_017029836.1:c.303+5_303+6insA	XP_016885325.1:n.303+5_303+6insA
NM_001256789.3:c.3036+5_3036+6insA MANE Select	NP_001243718.1:n.3036+5_3036+6insA
NM_001256790.3:c.2874+5_2874+6insA	NP_001243719.1:n.2874+5_2874+6insA
NM_005183.4:c.3069+5_3069+6insA	NP_005174.2:n.3069+5_3069+6insA