Canonical Allele Identifier: CA1580460213

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592540_126592541delinsGC , CM000667.2:g.126592540_126592541delinsGC	GRCh38
NC_000005.9:g.125928232_125928233delinsGC , CM000667.1:g.125928232_125928233delinsGC	GRCh37
NC_000005.8:g.125956131_125956132delinsGC	NCBI36
NG_008600.2:g.7850_7851delinsGC
NG_008600.3:g.7850_7851delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.312+123_312+124delinsGC MANE Select	ENSP00000387123.3:n.312+123_312+124delinsGC
ENST00000412186.2:c.312+123_312+124delinsGC	ENSP00000414536.2:n.312+123_312+124delinsGC
ENST00000413020.6:c.312+123_312+124delinsGC	ENSP00000487936.1:n.312+123_312+124delinsGC
ENST00000458249.6:c.*221+123_*221+124delinsGC	ENSP00000403929.1:n.*221+123_*221+124delinsGC
ENST00000479989.6:n.495+123_495+124delinsGC
ENST00000503281.6:c.106+2466_106+2467delinsGC
ENST00000509270.2:c.246+810_246+811delinsGC	ENSP00000449318.2:n.246+810_246+811delinsGC
ENST00000509459.6:c.65+2466_65+2467delinsGC
ENST00000511266.6:n.1034+123_1034+124delinsGC
ENST00000635851.1:c.310+123_310+124delinsGC
ENST00000635858.1:n.274_275delinsGC
ENST00000635933.1:n.341+123_341+124delinsGC
ENST00000636062.1:n.207+123_207+124delinsGC
ENST00000636190.1:n.191+123_191+124delinsGC
ENST00000636225.1:c.*121+123_*121+124delinsGC	ENSP00000490797.1:n.*121+123_*121+124delinsGC
ENST00000636743.1:c.192+2466_192+2467delinsGC	ENSP00000489725.1:n.192+2466_192+2467delinsGC
ENST00000636808.1:c.*121+123_*121+124delinsGC	ENSP00000490833.1:n.*121+123_*121+124delinsGC
ENST00000636872.1:c.472+123_472+124delinsGC	ENSP00000490919.1:n.472+123_472+124delinsGC
ENST00000636879.1:c.312+123_312+124delinsGC	ENSP00000490811.1:n.312+123_312+124delinsGC
ENST00000636886.1:c.192+2466_192+2467delinsGC	ENSP00000490371.1:n.192+2466_192+2467delinsGC
ENST00000637206.1:c.312+123_312+124delinsGC	ENSP00000489895.1:n.312+123_312+124delinsGC
ENST00000637272.1:c.312+123_312+124delinsGC	ENSP00000489686.1:n.312+123_312+124delinsGC
ENST00000637782.1:c.312+123_312+124delinsGC	ENSP00000490024.1:n.312+123_312+124delinsGC
ENST00000637964.1:c.258+123_258+124delinsGC	ENSP00000490291.1:n.258+123_258+124delinsGC
ENST00000638008.1:c.*121+123_*121+124delinsGC	ENSP00000490400.1:n.*121+123_*121+124delinsGC
ENST00000409134.7:c.312+123_312+124delinsGC	ENSP00000387123.3:n.312+123_312+124delinsGC
ENST00000412186.1:c.*121+123_*121+124delinsGC	ENSP00000414536.1:n.*121+123_*121+124delinsGC
ENST00000413020.5:c.312+123_312+124delinsGC	ENSP00000487936.1:n.312+123_312+124delinsGC
ENST00000447989.6:c.393+123_393+124delinsGC	ENSP00000414132.2:n.393+123_393+124delinsGC
ENST00000458249.5:c.472+123_472+124delinsGC	ENSP00000403929.1:n.472+123_472+124delinsGC
ENST00000479989.5:n.495+123_495+124delinsGC
ENST00000503281.5:c.106+2466_106+2467delinsGC
ENST00000509270.1:c.192+2466_192+2467delinsGC	ENSP00000449318.1:n.192+2466_192+2467delinsGC
ENST00000509459.5:c.65+2466_65+2467delinsGC
ENST00000510111.6:c.306+123_306+124delinsGC	ENSP00000447388.1:n.306+123_306+124delinsGC
ENST00000511266.5:n.267+123_267+124delinsGC
ENST00000553117.5:c.312+123_312+124delinsGC	ENSP00000448593.1:n.312+123_312+124delinsGC
NM_001182.4:c.312+123_312+124delinsGC	NP_001173.2:n.312+123_312+124delinsGC
NM_001201377.1:c.228+123_228+124delinsGC	NP_001188306.1:n.228+123_228+124delinsGC
NM_001202404.1:c.393+123_393+124delinsGC	NP_001189333.1:n.393+123_393+124delinsGC
XM_011543417.1:c.-94+123_-94+124delinsGC	XP_011541719.1:n.-94+123_-94+124delinsGC
XM_011543417.2:c.-94+123_-94+124delinsGC	XP_011541719.1:n.-94+123_-94+124delinsGC
NM_001182.5:c.312+123_312+124delinsGC MANE Select	NP_001173.2:n.312+123_312+124delinsGC
NM_001201377.2:c.228+123_228+124delinsGC	NP_001188306.1:n.228+123_228+124delinsGC
NM_001202404.2:c.312+123_312+124delinsGC	NP_001189333.2:n.312+123_312+124delinsGC