Canonical Allele Identifier: CA2579607670

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218569-TGGCCCTGGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218581_49218591del , CM000685.2:g.49218581_49218591del	GRCh38
NC_000023.10:g.49075040_49075050del , CM000685.1:g.49075040_49075050del	GRCh37
NC_000023.9:g.48961984_48961994del	NCBI36
NG_009095.2:g.19787_19797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2841-38_2841-28del MANE Select	ENSP00000321618.6:n.2841-38_2841-28del
ENST00000323022.9:c.2841-38_2841-28del	ENSP00000321618.5:n.2841-38_2841-28del
ENST00000376251.5:c.2679-38_2679-28del	ENSP00000365427.1:n.2679-38_2679-28del
ENST00000376265.2:c.2874-38_2874-28del	ENSP00000365441.2:n.2874-38_2874-28del
NM_001256789.2:c.2841-38_2841-28del	NP_001243718.1:n.2841-38_2841-28del
NM_001256790.2:c.2679-38_2679-28del	NP_001243719.1:n.2679-38_2679-28del
NM_005183.3:c.2874-38_2874-28del	NP_005174.2:n.2874-38_2874-28del
XM_011543983.1:c.2679-38_2679-28del	XP_011542285.1:n.2679-38_2679-28del
XM_011543983.2:c.2679-38_2679-28del	XP_011542285.1:n.2679-38_2679-28del
XM_017029836.1:c.108-38_108-28del	XP_016885325.1:n.108-38_108-28del
NM_001256789.3:c.2841-38_2841-28del MANE Select	NP_001243718.1:n.2841-38_2841-28del
NM_001256790.3:c.2679-38_2679-28del	NP_001243719.1:n.2679-38_2679-28del
NM_005183.4:c.2874-38_2874-28del	NP_005174.2:n.2874-38_2874-28del