Canonical Allele Identifier: CA2675058139

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126592652-GGCCATACTTACATCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592656_126592670del , CM000667.2:g.126592656_126592670del	GRCh38
NC_000005.9:g.125928348_125928362del , CM000667.1:g.125928348_125928362del	GRCh37
NC_000005.8:g.125956247_125956261del	NCBI36
NG_008600.2:g.7724_7738del
NG_008600.3:g.7724_7738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.309_312+11del
ENST00000412186.2:c.309_312+11del
ENST00000413020.6:c.309_312+11del
ENST00000458249.6:c.*218_*221+11del
ENST00000479989.6:n.492_495+11del
ENST00000503281.6:c.106+2340_106+2354del
ENST00000509270.2:c.246+684_246+698del	ENSP00000449318.2:n.246+684_246+698del
ENST00000509459.6:c.65+2340_65+2354del
ENST00000511266.6:n.1031_1034+11del
ENST00000635851.1:c.307_310+11del
ENST00000635858.1:n.148_162del
ENST00000635933.1:n.338_341+11del
ENST00000636062.1:n.204_207+11del
ENST00000636190.1:n.188_191+11del
ENST00000636225.1:c.*118_*121+11del
ENST00000636743.1:c.192+2340_192+2354del	ENSP00000489725.1:n.192+2340_192+2354del
ENST00000636808.1:c.*118_*121+11del
ENST00000636872.1:c.469_472+11del
ENST00000636879.1:c.309_312+11del
ENST00000636886.1:c.192+2340_192+2354del	ENSP00000490371.1:n.192+2340_192+2354del
ENST00000637206.1:c.309_312+11del
ENST00000637272.1:c.309_312+11del
ENST00000637782.1:c.309_312+11del
ENST00000637964.1:c.255_258+11del
ENST00000638008.1:c.*118_*121+11del
ENST00000409134.7:c.309_312+11del
ENST00000412186.1:c.*118_*121+11del
ENST00000413020.5:c.309_312+11del
ENST00000447989.6:c.390_393+11del
ENST00000458249.5:c.469_472+11del
ENST00000479989.5:n.492_495+11del
ENST00000503281.5:c.106+2340_106+2354del
ENST00000509270.1:c.192+2340_192+2354del	ENSP00000449318.1:n.192+2340_192+2354del
ENST00000509459.5:c.65+2340_65+2354del
ENST00000510111.6:c.303_306+11del
ENST00000511266.5:n.264_267+11del
ENST00000553117.5:c.309_312+11del
NM_001182.4:c.309_312+11del
NM_001201377.1:c.225_228+11del
NM_001202404.1:c.390_393+11del
XM_011543417.1:c.-97_-94+11del
XM_011543417.2:c.-97_-94+11del
NM_001182.5:c.309_312+11del
NM_001201377.2:c.225_228+11del
NM_001202404.2:c.309_312+11del