Canonical Allele Identifier: CA8147436
Community Standard Title: NM_018052.5(VAC14):c.2035+19del
Gene: VAC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70695526del , CM000678.2:g.70695526del GRCh38
NC_000016.9:g.70729429del , CM000678.1:g.70729429del GRCh37
NC_000016.8:g.69286930del NCBI36
NG_054902.1:g.110645del

Transcript Alleles

HGVS Amino-acid Change
NM_018052.5:c.2035+19del MANE Select NP_060522.3:n.2035+19del
ENST00000261776.10:c.2035+19del MANE Select ENSP00000261776.5:n.2035+19del
NM_001351157.1:c.1333+19del NP_001338086.1:n.1333+19del
NM_001351157.2:c.1333+19del NP_001338086.1:n.1333+19del
NM_018052.3:c.2035+19del NP_060522.3:n.2035+19del
NM_018052.4:c.2035+19del NP_060522.3:n.2035+19del
ENST00000261776.9:c.2035+19del ENSP00000261776.5:n.2035+19del
ENST00000536184.6:c.331+19del ENSP00000439284.2:n.331+19del
ENST00000564512.1:n.313+19del
ENST00000566416.1:c.581+19del
ENST00000567648.1:c.50+19del
ENST00000568548.5:c.*1761+19del ENSP00000454650.1:n.*1761+19del
ENST00000568886.5:c.*660+19del ENSP00000457809.1:n.*660+19del
XM_005256038.2:c.2035+19del XP_005256095.1:n.2035+19del
XM_005256038.4:c.2035+19del XP_005256095.1:n.2035+19del