Canonical Allele Identifier: CA2739275014

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2857467
• ClinVar RCV Id: RCV003632165

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126594492_126595162del , CM000667.2:g.126594492_126595162del	GRCh38
NC_000005.9:g.125930184_125930854del , CM000667.1:g.125930184_125930854del	GRCh37
NC_000005.8:g.125958083_125958753del	NCBI36
NG_008600.2:g.5231_5901del
NG_008600.3:g.5231_5901del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.39_192+517del
ENST00000412186.2:c.39_192+517del
ENST00000413020.6:c.39_192+517del
ENST00000458249.6:c.39_193-223del
ENST00000509270.2:c.39_192+517del
ENST00000635851.1:c.37_190+517del
ENST00000635933.1:n.68_221+517del
ENST00000636225.1:c.39_192+517del
ENST00000636743.1:c.39_192+517del
ENST00000636808.1:c.39_192+517del
ENST00000636872.1:c.39_193-223del
ENST00000636879.1:c.39_192+517del
ENST00000636886.1:c.39_192+517del
ENST00000637206.1:c.39_192+517del
ENST00000637272.1:c.39_192+517del
ENST00000637782.1:c.39_192+517del
ENST00000637964.1:c.39_192+517del
ENST00000638008.1:c.39_192+517del
ENST00000409134.7:c.39_192+517del
ENST00000412186.1:c.39_192+517del
ENST00000413020.5:c.39_192+517del
ENST00000447989.6:c.120_273+517del
ENST00000458249.5:c.39_193-223del
ENST00000509270.1:c.39_192+517del
ENST00000510111.6:c.33_186+517del
ENST00000553117.5:c.39_192+517del
NM_001182.4:c.39_192+517del
NM_001201377.1:c.-46_108+517del
NM_001202404.1:c.120_273+517del
NM_001182.5:c.39_192+517del
NM_001201377.2:c.-46_108+517del
NM_001202404.2:c.39_192+517del