Canonical Allele Identifier: CA2693707735

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217943-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217947_49217949del , CM000685.2:g.49217947_49217949del	GRCh38
NC_000023.10:g.49074406_49074408del , CM000685.1:g.49074406_49074408del	GRCh37
NC_000023.9:g.48961350_48961352del	NCBI36
NG_009095.2:g.20421_20423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2988_2990del MANE Select	ENSP00000321618.6:p.Thr997del
ENST00000323022.9:c.2988_2990del	ENSP00000321618.5:p.Thr997del
ENST00000376251.5:c.2826_2828del	ENSP00000365427.1:p.Thr943del
ENST00000376265.2:c.3021_3023del	ENSP00000365441.2:p.Thr1008del
NM_001256789.2:c.2988_2990del	NP_001243718.1:p.Thr997del
NM_001256790.2:c.2826_2828del	NP_001243719.1:p.Thr943del
NM_005183.3:c.3021_3023del	NP_005174.2:p.Thr1008del
XM_011543983.1:c.2826_2828del	XP_011542285.1:p.Thr943del
XM_011543983.2:c.2826_2828del	XP_011542285.1:p.Thr943del
XM_017029836.1:c.255_257del	XP_016885325.1:p.Thr86del
NM_001256789.3:c.2988_2990del MANE Select	NP_001243718.1:p.Thr997del
NM_001256790.3:c.2826_2828del	NP_001243719.1:p.Thr943del
NM_005183.4:c.3021_3023del	NP_005174.2:p.Thr1008del