Canonical Allele Identifier: CA2675066639

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544992-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544994del , CM000667.2:g.126544994del	GRCh38
NC_000005.9:g.125880686del , CM000667.1:g.125880686del	GRCh37
NC_000005.8:g.125908585del	NCBI36
NG_008600.2:g.55398del
NG_008600.3:g.55398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1592del MANE Select	ENSP00000387123.3:p.Pro531LeufsTer20
ENST00000458249.6:c.*1501del	ENSP00000403929.1:n.*1501del
ENST00000485852.7:n.339del
ENST00000497231.7:n.2019del
ENST00000635851.1:c.1563+1331del
ENST00000636286.1:n.1357del
ENST00000636482.1:n.1126del
ENST00000636743.1:c.1472del	ENSP00000489725.1:p.Pro491LeufsTer20
ENST00000636808.1:c.*1401del	ENSP00000490833.1:n.*1401del
ENST00000636872.1:c.1752del	ENSP00000490919.1:n.1752del
ENST00000636879.1:c.1637del	ENSP00000490811.1:p.Pro546LeufsTer20
ENST00000636886.1:c.1391del	ENSP00000490371.1:p.Pro464LeufsTer20
ENST00000637206.1:c.1412del	ENSP00000489895.1:p.Pro471LeufsTer20
ENST00000637272.1:c.1583del	ENSP00000489686.1:p.Pro528LeufsTer20
ENST00000637292.1:c.1048del
ENST00000637782.1:c.1565+1331del	ENSP00000490024.1:n.1565+1331del
ENST00000638008.1:c.*1436del	ENSP00000490400.1:n.*1436del
ENST00000638010.1:n.1538del
ENST00000409134.7:c.1592del	ENSP00000387123.3:p.Pro531LeufsTer20
ENST00000447989.6:c.1481del	ENSP00000414132.2:p.Pro494LeufsTer20
ENST00000485852.6:n.339del
ENST00000497231.6:n.1802del
ENST00000553117.5:c.1400del	ENSP00000448593.1:p.Pro467LeufsTer20
NM_001182.4:c.1592del	NP_001173.2:p.Pro531LeufsTer20
NM_001201377.1:c.1508del	NP_001188306.1:p.Pro503LeufsTer20
NM_001202404.1:c.1481del	NP_001189333.1:p.Pro494LeufsTer20
XM_011543417.1:c.1187del	XP_011541719.1:p.Pro396LeufsTer20
XM_011543417.2:c.1187del	XP_011541719.1:p.Pro396LeufsTer20
NM_001182.5:c.1592del MANE Select	NP_001173.2:p.Pro531LeufsTer20
NM_001201377.2:c.1508del	NP_001188306.1:p.Pro503LeufsTer20
NM_001202404.2:c.1400del	NP_001189333.2:p.Pro467LeufsTer20