Canonical Allele Identifier: CA1580458622

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1751261615

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126583895_126583898del , CM000667.2:g.126583895_126583898del	GRCh38
NC_000005.9:g.125919587_125919590del , CM000667.1:g.125919587_125919590del	GRCh37
NC_000005.8:g.125947486_125947489del	NCBI36
NG_008600.2:g.16495_16498del
NG_008600.3:g.16495_16498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.393+36_393+39del MANE Select	ENSP00000387123.3:n.393+36_393+39del
ENST00000412186.2:c.393+36_393+39del	ENSP00000414536.2:n.393+36_393+39del
ENST00000413020.6:c.393+36_393+39del	ENSP00000487936.1:n.393+36_393+39del
ENST00000458249.6:c.*302+36_*302+39del	ENSP00000403929.1:n.*302+36_*302+39del
ENST00000479989.6:n.576+36_576+39del
ENST00000503281.6:c.107-6685_107-6682del
ENST00000509270.2:c.327+36_327+39del	ENSP00000449318.2:n.327+36_327+39del
ENST00000509459.6:c.66-6685_66-6682del
ENST00000511266.6:n.1115+36_1115+39del
ENST00000635851.1:c.391+36_391+39del
ENST00000636062.1:n.288+36_288+39del
ENST00000636190.1:n.272+36_272+39del
ENST00000636225.1:c.*202+36_*202+39del	ENSP00000490797.1:n.*202+36_*202+39del
ENST00000636286.1:n.111+36_111+39del
ENST00000636743.1:c.273+36_273+39del	ENSP00000489725.1:n.273+36_273+39del
ENST00000636808.1:c.*202+36_*202+39del	ENSP00000490833.1:n.*202+36_*202+39del
ENST00000636872.1:c.553+36_553+39del	ENSP00000490919.1:n.553+36_553+39del
ENST00000636879.1:c.393+36_393+39del	ENSP00000490811.1:n.393+36_393+39del
ENST00000636886.1:c.193-922_193-919del	ENSP00000490371.1:n.193-922_193-919del
ENST00000637070.1:n.7+36_7+39del
ENST00000637206.1:c.393+36_393+39del	ENSP00000489895.1:n.393+36_393+39del
ENST00000637272.1:c.393+36_393+39del	ENSP00000489686.1:n.393+36_393+39del
ENST00000637292.1:c.46+36_46+39del
ENST00000637782.1:c.393+36_393+39del	ENSP00000490024.1:n.393+36_393+39del
ENST00000637964.1:c.339+36_339+39del	ENSP00000490291.1:n.339+36_339+39del
ENST00000638008.1:c.*335+36_*335+39del	ENSP00000490400.1:n.*335+36_*335+39del
ENST00000409134.7:c.393+36_393+39del	ENSP00000387123.3:n.393+36_393+39del
ENST00000413020.5:c.393+36_393+39del	ENSP00000487936.1:n.393+36_393+39del
ENST00000447989.6:c.474+36_474+39del	ENSP00000414132.2:n.474+36_474+39del
ENST00000458249.5:c.553+36_553+39del	ENSP00000403929.1:n.553+36_553+39del
ENST00000503281.5:c.107-6685_107-6682del
ENST00000509270.1:c.273+36_273+39del	ENSP00000449318.1:n.273+36_273+39del
ENST00000509459.5:c.66-6685_66-6682del
ENST00000510111.6:c.307-922_307-919del	ENSP00000447388.1:n.307-922_307-919del
ENST00000511266.5:n.348+36_348+39del
ENST00000553117.5:c.393+36_393+39del	ENSP00000448593.1:n.393+36_393+39del
NM_001182.4:c.393+36_393+39del	NP_001173.2:n.393+36_393+39del
NM_001201377.1:c.309+36_309+39del	NP_001188306.1:n.309+36_309+39del
NM_001202404.1:c.474+36_474+39del	NP_001189333.1:n.474+36_474+39del
XM_011543417.1:c.-13+36_-13+39del	XP_011541719.1:n.-13+36_-13+39del
XM_011543417.2:c.-13+36_-13+39del	XP_011541719.1:n.-13+36_-13+39del
NM_001182.5:c.393+36_393+39del MANE Select	NP_001173.2:n.393+36_393+39del
NM_001201377.2:c.309+36_309+39del	NP_001188306.1:n.309+36_309+39del
NM_001202404.2:c.393+36_393+39del	NP_001189333.2:n.393+36_393+39del