Canonical Allele Identifier: CA521489118

Gene: ALDH4A1

Linked Data

• dbSNP Id: rs1425308044
• gnomAD v2: 1-19228904-TCCCGGGCCCCAGGCGCGCGCTCGGGCCGC-T
• gnomAD v3: 1-18902410-TCCCGGGCCCCAGGCGCGCGCTCGGGCCGC-T
• gnomAD v4: 1-18902410-TCCCGGGCCCCAGGCGCGCGCTCGGGCCGC-T
• MyVariant Identifiers: chr1:g.19228905_19228933del (hg19) ; chr1:g.18902411_18902439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18902421_18902449del , CM000663.2:g.18902421_18902449del	GRCh38
NC_000001.10:g.19228915_19228943del , CM000663.1:g.19228915_19228943del	GRCh37
NC_000001.9:g.19101502_19101530del	NCBI36
NG_012283.1:g.5361_5389del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375341.8:c.62+23_62+51del MANE Select	ENSP00000364490.3:n.62+23_62+51del
ENST00000290597.9:c.62+23_62+51del	ENSP00000290597.5:n.62+23_62+51del
ENST00000375341.7:c.62+23_62+51del	ENSP00000364490.3:n.62+23_62+51del
ENST00000432718.1:c.62+23_62+51del	ENSP00000393209.1:n.62+23_62+51del
ENST00000494072.3:c.911+6100_911+6128del
ENST00000538839.5:c.62+23_62+51del	ENSP00000446071.1:n.62+23_62+51del
NM_003748.3:c.62+23_62+51del	NP_003739.2:n.62+23_62+51del
NM_170726.2:c.62+23_62+51del	NP_733844.1:n.62+23_62+51del
XM_011542352.1:c.62+23_62+51del	XP_011540654.1:n.62+23_62+51del
XM_011542353.1:c.62+23_62+51del	XP_011540655.1:n.62+23_62+51del
XR_946786.1:n.119+23_119+51del
NM_001319218.1:c.62+23_62+51del	NP_001306147.1:n.62+23_62+51del
XR_001737510.1:n.119+23_119+51del
NM_003748.4:c.62+23_62+51del MANE Select	NP_003739.2:n.62+23_62+51del
NM_170726.3:c.62+23_62+51del	NP_733844.1:n.62+23_62+51del
NM_001319218.2:c.62+23_62+51del	NP_001306147.1:n.62+23_62+51del