Canonical Allele Identifier: CA2693708580

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218406-GGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218416_49218420del , CM000685.2:g.49218416_49218420del	GRCh38
NC_000023.10:g.49074875_49074879del , CM000685.1:g.49074875_49074879del	GRCh37
NC_000023.9:g.48961819_48961823del	NCBI36
NG_009095.2:g.19956_19960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323022.10:c.2928+44_2928+48del MANE Select	ENSP00000321618.6:n.2928+44_2928+48del
ENST00000323022.9:c.2928+44_2928+48del	ENSP00000321618.5:n.2928+44_2928+48del
ENST00000376251.5:c.2766+44_2766+48del	ENSP00000365427.1:n.2766+44_2766+48del
ENST00000376265.2:c.2961+44_2961+48del	ENSP00000365441.2:n.2961+44_2961+48del
NM_001256789.2:c.2928+44_2928+48del	NP_001243718.1:n.2928+44_2928+48del
NM_001256790.2:c.2766+44_2766+48del	NP_001243719.1:n.2766+44_2766+48del
NM_005183.3:c.2961+44_2961+48del	NP_005174.2:n.2961+44_2961+48del
XM_011543983.1:c.2766+44_2766+48del	XP_011542285.1:n.2766+44_2766+48del
XM_011543983.2:c.2766+44_2766+48del	XP_011542285.1:n.2766+44_2766+48del
XM_017029836.1:c.195+44_195+48del	XP_016885325.1:n.195+44_195+48del
NM_001256789.3:c.2928+44_2928+48del MANE Select	NP_001243718.1:n.2928+44_2928+48del
NM_001256790.3:c.2766+44_2766+48del	NP_001243719.1:n.2766+44_2766+48del
NM_005183.4:c.2961+44_2961+48del	NP_005174.2:n.2961+44_2961+48del