Canonical Allele Identifier: CA2675065867

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544698-CTTTTAAAAAGCCATGTACAACTAGTTGACATAATAAAAATCCACCTAACTCATCTTTTAGTAACTATGGCTATGTTGTAACAATTTTATTTTGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544708_126544802del , CM000667.2:g.126544708_126544802del	GRCh38
NC_000005.9:g.125880400_125880494del , CM000667.1:g.125880400_125880494del	GRCh37
NC_000005.8:g.125908299_125908393del	NCBI36
NG_008600.2:g.55598_55692del
NG_008600.3:g.55598_55692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*172_*266del MANE Select	ENSP00000387123.3:n.*172_*266del
ENST00000635851.1:c.1563+1531_1563+1625del
ENST00000636743.1:c.*172_*266del	ENSP00000489725.1:n.*172_*266del
ENST00000636808.1:c.*1601_*1695del	ENSP00000490833.1:n.*1601_*1695del
ENST00000636872.1:c.1952_2046del	ENSP00000490919.1:n.1952_2046del
ENST00000636879.1:c.*172_*266del	ENSP00000490811.1:n.*172_*266del
ENST00000636886.1:c.*172_*266del	ENSP00000490371.1:n.*172_*266del
ENST00000637206.1:c.*172_*266del	ENSP00000489895.1:n.*172_*266del
ENST00000637272.1:c.*172_*266del	ENSP00000489686.1:n.*172_*266del
ENST00000637782.1:c.1565+1531_1565+1625del	ENSP00000490024.1:n.1565+1531_1565+1625del
ENST00000409134.7:c.*172_*266del	ENSP00000387123.3:n.*172_*266del
ENST00000447989.6:c.*172_*266del	ENSP00000414132.2:n.*172_*266del
ENST00000553117.5:c.*172_*266del	ENSP00000448593.1:n.*172_*266del
NM_001182.4:c.*172_*266del	NP_001173.2:n.*172_*266del
NM_001201377.1:c.*172_*266del	NP_001188306.1:n.*172_*266del
NM_001202404.1:c.*172_*266del	NP_001189333.1:n.*172_*266del
XM_011543417.2:c.*172_*266del	XP_011541719.1:n.*172_*266del
NM_001182.5:c.*172_*266del MANE Select	NP_001173.2:n.*172_*266del
NM_001201377.2:c.*172_*266del	NP_001188306.1:n.*172_*266del
NM_001202404.2:c.*172_*266del	NP_001189333.2:n.*172_*266del