Canonical Allele Identifier: CA2768291339

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544683_126544686del , CM000667.2:g.126544683_126544686del	GRCh38
NC_000005.9:g.125880375_125880378del , CM000667.1:g.125880375_125880378del	GRCh37
NC_000005.8:g.125908274_125908277del	NCBI36
NG_008600.2:g.55706_55709del
NG_008600.3:g.55706_55709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*280_*283del MANE Select	ENSP00000387123.3:n.*280_*283del
ENST00000635851.1:c.1563+1639_1563+1642del
ENST00000636743.1:c.*280_*283del	ENSP00000489725.1:n.*280_*283del
ENST00000636808.1:c.*1709_*1712del	ENSP00000490833.1:n.*1709_*1712del
ENST00000636872.1:c.2060_2063del	ENSP00000490919.1:n.2060_2063del
ENST00000636879.1:c.*280_*283del	ENSP00000490811.1:n.*280_*283del
ENST00000636886.1:c.*280_*283del	ENSP00000490371.1:n.*280_*283del
ENST00000637206.1:c.*280_*283del	ENSP00000489895.1:n.*280_*283del
ENST00000637272.1:c.*280_*283del	ENSP00000489686.1:n.*280_*283del
ENST00000637782.1:c.1565+1639_1565+1642del	ENSP00000490024.1:n.1565+1639_1565+1642del
ENST00000409134.7:c.*280_*283del	ENSP00000387123.3:n.*280_*283del
ENST00000447989.6:c.*280_*283del	ENSP00000414132.2:n.*280_*283del
ENST00000553117.5:c.*280_*283del	ENSP00000448593.1:n.*280_*283del
NM_001182.4:c.*280_*283del	NP_001173.2:n.*280_*283del
NM_001201377.1:c.*280_*283del	NP_001188306.1:n.*280_*283del
NM_001202404.1:c.*280_*283del	NP_001189333.1:n.*280_*283del
XM_011543417.2:c.*280_*283del	XP_011541719.1:n.*280_*283del
NM_001182.5:c.*280_*283del MANE Select	NP_001173.2:n.*280_*283del
NM_001201377.2:c.*280_*283del	NP_001188306.1:n.*280_*283del
NM_001202404.2:c.*280_*283del	NP_001189333.2:n.*280_*283del