Canonical Allele Identifier: CA2594515997

Gene: CACNA1F

Linked Data

• gnomAD v3: X-49216240-C-CTA
• gnomAD v4: X-49216240-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216241_49216242insAT , CM000685.2:g.49216241_49216242insAT	GRCh38
NC_000023.10:g.49072701_49072702insAT , CM000685.1:g.49072701_49072702insAT	GRCh37
NC_000023.9:g.48959645_48959646insAT	NCBI36
NG_009095.2:g.22126_22127insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+141_3236+142insTA MANE Select	ENSP00000321618.6:n.3236+141_3236+142insTA
ENST00000323022.9:c.3236+141_3236+142insTA	ENSP00000321618.5:n.3236+141_3236+142insTA
ENST00000376251.5:c.3074+141_3074+142insTA	ENSP00000365427.1:n.3074+141_3074+142insTA
ENST00000376265.2:c.3269+141_3269+142insTA	ENSP00000365441.2:n.3269+141_3269+142insTA
NM_001256789.2:c.3236+141_3236+142insTA	NP_001243718.1:n.3236+141_3236+142insTA
NM_001256790.2:c.3074+141_3074+142insTA	NP_001243719.1:n.3074+141_3074+142insTA
NM_005183.3:c.3269+141_3269+142insTA	NP_005174.2:n.3269+141_3269+142insTA
XM_011543983.1:c.3074+141_3074+142insTA	XP_011542285.1:n.3074+141_3074+142insTA
XM_011543983.2:c.3074+141_3074+142insTA	XP_011542285.1:n.3074+141_3074+142insTA
XM_017029836.1:c.503+141_503+142insTA	XP_016885325.1:n.503+141_503+142insTA
NM_001256789.3:c.3236+141_3236+142insTA MANE Select	NP_001243718.1:n.3236+141_3236+142insTA
NM_001256790.3:c.3074+141_3074+142insTA	NP_001243719.1:n.3074+141_3074+142insTA
NM_005183.4:c.3269+141_3269+142insTA	NP_005174.2:n.3269+141_3269+142insTA