Canonical Allele Identifier: CA126882060

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1014306235
• gnomAD v2: 5-125880449-A-AT
• gnomAD v3: 5-126544757-A-AT
• gnomAD v4: 5-126544757-A-AT
• MyVariant Identifiers: chr5:g.125880449_125880450insT (hg19) ; chr5:g.126544757_126544758insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544757_126544758insT , CM000667.2:g.126544757_126544758insT	GRCh38
NC_000005.9:g.125880449_125880450insT , CM000667.1:g.125880449_125880450insT	GRCh37
NC_000005.8:g.125908348_125908349insT	NCBI36
NG_008600.2:g.55633_55634insA
NG_008600.3:g.55633_55634insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*207_*208insA MANE Select	ENSP00000387123.3:n.*207_*208insA
ENST00000485852.7:n.574_575insA
ENST00000497231.7:n.2254_2255insA
ENST00000635851.1:c.1563+1566_1563+1567insA
ENST00000636743.1:c.*207_*208insA	ENSP00000489725.1:n.*207_*208insA
ENST00000636808.1:c.*1636_*1637insA	ENSP00000490833.1:n.*1636_*1637insA
ENST00000636872.1:c.1987_1988insA	ENSP00000490919.1:n.1987_1988insA
ENST00000636879.1:c.*207_*208insA	ENSP00000490811.1:n.*207_*208insA
ENST00000636886.1:c.*207_*208insA	ENSP00000490371.1:n.*207_*208insA
ENST00000637206.1:c.*207_*208insA	ENSP00000489895.1:n.*207_*208insA
ENST00000637272.1:c.*207_*208insA	ENSP00000489686.1:n.*207_*208insA
ENST00000637782.1:c.1565+1566_1565+1567insA	ENSP00000490024.1:n.1565+1566_1565+1567insA
ENST00000409134.7:c.*207_*208insA	ENSP00000387123.3:n.*207_*208insA
ENST00000447989.6:c.*207_*208insA	ENSP00000414132.2:n.*207_*208insA
ENST00000485852.6:n.574_575insA
ENST00000497231.6:n.2037_2038insA
ENST00000553117.5:c.*207_*208insA	ENSP00000448593.1:n.*207_*208insA
NM_001182.4:c.*207_*208insA	NP_001173.2:n.*207_*208insA
NM_001201377.1:c.*207_*208insA	NP_001188306.1:n.*207_*208insA
NM_001202404.1:c.*207_*208insA	NP_001189333.1:n.*207_*208insA
XM_011543417.1:c.*207_*208insA	XP_011541719.1:n.*207_*208insA
XM_011543417.2:c.*207_*208insA	XP_011541719.1:n.*207_*208insA
NM_001182.5:c.*207_*208insA MANE Select	NP_001173.2:n.*207_*208insA
NM_001201377.2:c.*207_*208insA	NP_001188306.1:n.*207_*208insA
NM_001202404.2:c.*207_*208insA	NP_001189333.2:n.*207_*208insA