Canonical Allele Identifier: CA2695233569

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216438_49216439del , CM000685.2:g.49216438_49216439del	GRCh38
NC_000023.10:g.49072898_49072899del , CM000685.1:g.49072898_49072899del	GRCh37
NC_000023.9:g.48959842_48959843del	NCBI36
NG_009095.2:g.21928_21929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3179_3180del MANE Select	ENSP00000321618.6:p.Asn1060SerfsTer15
ENST00000323022.9:c.3179_3180del	ENSP00000321618.5:p.Asn1060SerfsTer15
ENST00000376251.5:c.3017_3018del	ENSP00000365427.1:p.Asn1006SerfsTer15
ENST00000376265.2:c.3212_3213del	ENSP00000365441.2:p.Asn1071SerfsTer15
NM_001256789.2:c.3179_3180del	NP_001243718.1:p.Asn1060SerfsTer15
NM_001256790.2:c.3017_3018del	NP_001243719.1:p.Asn1006SerfsTer15
NM_005183.3:c.3212_3213del	NP_005174.2:p.Asn1071SerfsTer15
XM_011543983.1:c.3017_3018del	XP_011542285.1:p.Asn1006SerfsTer15
XM_011543983.2:c.3017_3018del	XP_011542285.1:p.Asn1006SerfsTer15
XM_017029836.1:c.446_447del	XP_016885325.1:p.Asn149SerfsTer15
NM_001256789.3:c.3179_3180del MANE Select	NP_001243718.1:p.Asn1060SerfsTer15
NM_001256790.3:c.3017_3018del	NP_001243719.1:p.Asn1006SerfsTer15
NM_005183.4:c.3212_3213del	NP_005174.2:p.Asn1071SerfsTer15