Canonical Allele Identifier: CA2580072490

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126575407del , CM000667.2:g.126575407del	GRCh38
NC_000005.9:g.125911099del , CM000667.1:g.125911099del	GRCh37
NC_000005.8:g.125938998del	NCBI36
NG_008600.2:g.24985del
NG_008600.3:g.24985del

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.695+14del MANE Select	NP_001173.2:n.695+14del
ENST00000409134.8:c.695+14del MANE Select	ENSP00000387123.3:n.695+14del
NM_001182.4:c.695+14del	NP_001173.2:n.695+14del
NM_001201377.1:c.611+14del	NP_001188306.1:n.611+14del
NM_001201377.2:c.611+14del	NP_001188306.1:n.611+14del
NM_001202404.1:c.776+14del	NP_001189333.1:n.776+14del
NM_001202404.2:c.695+14del	NP_001189333.2:n.695+14del
ENST00000409134.7:c.695+14del	ENSP00000387123.3:n.695+14del
ENST00000413020.5:c.695+14del	ENSP00000487936.1:n.695+14del
ENST00000413020.6:c.695+14del	ENSP00000487936.1:n.695+14del
ENST00000433026.5:n.222+14del
ENST00000447989.6:c.776+14del	ENSP00000414132.2:n.776+14del
ENST00000458249.5:c.855+14del	ENSP00000403929.1:n.855+14del
ENST00000458249.6:c.*604+14del	ENSP00000403929.1:n.*604+14del
ENST00000503281.5:c.284+14del
ENST00000503281.6:c.284+14del
ENST00000509459.5:c.243+14del
ENST00000509459.6:c.243+14del
ENST00000510111.6:c.608+14del	ENSP00000447388.1:n.608+14del
ENST00000511266.6:n.1417+14del
ENST00000553117.5:c.695+14del	ENSP00000448593.1:n.695+14del
ENST00000635851.1:c.693+14del
ENST00000636062.1:n.590+14del
ENST00000636225.1:c.*504+14del	ENSP00000490797.1:n.*504+14del
ENST00000636286.1:n.413+14del
ENST00000636743.1:c.575+14del	ENSP00000489725.1:n.575+14del
ENST00000636808.1:c.*504+14del	ENSP00000490833.1:n.*504+14del
ENST00000636872.1:c.855+14del	ENSP00000490919.1:n.855+14del
ENST00000636879.1:c.740+14del	ENSP00000490811.1:n.740+14del
ENST00000636886.1:c.494+14del	ENSP00000490371.1:n.494+14del
ENST00000637206.1:c.695+14del	ENSP00000489895.1:n.695+14del
ENST00000637272.1:c.695+14del	ENSP00000489686.1:n.695+14del
ENST00000637292.1:c.348+14del
ENST00000637782.1:c.695+14del	ENSP00000490024.1:n.695+14del
ENST00000637964.1:c.641+14del	ENSP00000490291.1:n.641+14del
ENST00000638008.1:c.*637+14del	ENSP00000490400.1:n.*637+14del
XM_011543417.1:c.290+14del	XP_011541719.1:n.290+14del
XM_011543417.2:c.290+14del	XP_011541719.1:n.290+14del