Canonical Allele Identifier: CA2428539769
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216553_49216563delinsTGGGTGAGGAG , CM000685.2:g.49216553_49216563delinsTGGGTGAGGAG GRCh38
NC_000023.10:g.49073013_49073023delinsTGGGTGAGGAG , CM000685.1:g.49073013_49073023delinsTGGGTGAGGAG GRCh37
NC_000023.9:g.48959957_48959967delinsTGGGTGAGGAG NCBI36
NG_009095.2:g.21804_21814delinsCTCCTCACCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-35_3090-25delinsCTCCTCACCCA MANE Select ENSP00000321618.6:n.3090-35_3090-25delinsCTCCTCACCCA
ENST00000323022.9:c.3090-35_3090-25delinsCTCCTCACCCA ENSP00000321618.5:n.3090-35_3090-25delinsCTCCTCACCCA
ENST00000376251.5:c.2928-35_2928-25delinsCTCCTCACCCA ENSP00000365427.1:n.2928-35_2928-25delinsCTCCTCACCCA
ENST00000376265.2:c.3123-35_3123-25delinsCTCCTCACCCA ENSP00000365441.2:n.3123-35_3123-25delinsCTCCTCACCCA
NM_001256789.2:c.3090-35_3090-25delinsCTCCTCACCCA NP_001243718.1:n.3090-35_3090-25delinsCTCCTCACCCA
NM_001256790.2:c.2928-35_2928-25delinsCTCCTCACCCA NP_001243719.1:n.2928-35_2928-25delinsCTCCTCACCCA
NM_005183.3:c.3123-35_3123-25delinsCTCCTCACCCA NP_005174.2:n.3123-35_3123-25delinsCTCCTCACCCA
XM_011543983.1:c.2928-35_2928-25delinsCTCCTCACCCA XP_011542285.1:n.2928-35_2928-25delinsCTCCTCACCCA
XM_011543983.2:c.2928-35_2928-25delinsCTCCTCACCCA XP_011542285.1:n.2928-35_2928-25delinsCTCCTCACCCA
XM_017029836.1:c.357-35_357-25delinsCTCCTCACCCA XP_016885325.1:n.357-35_357-25delinsCTCCTCACCCA
NM_001256789.3:c.3090-35_3090-25delinsCTCCTCACCCA MANE Select NP_001243718.1:n.3090-35_3090-25delinsCTCCTCACCCA
NM_001256790.3:c.2928-35_2928-25delinsCTCCTCACCCA NP_001243719.1:n.2928-35_2928-25delinsCTCCTCACCCA
NM_005183.4:c.3123-35_3123-25delinsCTCCTCACCCA NP_005174.2:n.3123-35_3123-25delinsCTCCTCACCCA