Canonical Allele Identifier: CA2820835207
Gene: CACNA1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216633_49216634insACAT , CM000685.2:g.49216633_49216634insACAT GRCh38
NC_000023.10:g.49073093_49073094insACAT , CM000685.1:g.49073093_49073094insACAT GRCh37
NC_000023.9:g.48960037_48960038insACAT NCBI36
NG_009095.2:g.21733_21734insATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3090-106_3090-105insATGT MANE Select ENSP00000321618.6:n.3090-106_3090-105insATGT
ENST00000323022.9:c.3090-106_3090-105insATGT ENSP00000321618.5:n.3090-106_3090-105insATGT
ENST00000376251.5:c.2928-106_2928-105insATGT ENSP00000365427.1:n.2928-106_2928-105insATGT
ENST00000376265.2:c.3123-106_3123-105insATGT ENSP00000365441.2:n.3123-106_3123-105insATGT
NM_001256789.2:c.3090-106_3090-105insATGT NP_001243718.1:n.3090-106_3090-105insATGT
NM_001256790.2:c.2928-106_2928-105insATGT NP_001243719.1:n.2928-106_2928-105insATGT
NM_005183.3:c.3123-106_3123-105insATGT NP_005174.2:n.3123-106_3123-105insATGT
XM_011543983.1:c.2928-106_2928-105insATGT XP_011542285.1:n.2928-106_2928-105insATGT
XM_011543983.2:c.2928-106_2928-105insATGT XP_011542285.1:n.2928-106_2928-105insATGT
XM_017029836.1:c.357-106_357-105insATGT XP_016885325.1:n.357-106_357-105insATGT
NM_001256789.3:c.3090-106_3090-105insATGT MANE Select NP_001243718.1:n.3090-106_3090-105insATGT
NM_001256790.3:c.2928-106_2928-105insATGT NP_001243719.1:n.2928-106_2928-105insATGT
NM_005183.4:c.3123-106_3123-105insATGT NP_005174.2:n.3123-106_3123-105insATGT