Canonical Allele Identifier: CA553095878

Gene: ADH4

Linked Data

• gnomAD v2: 4-100048489-CTG-C
• gnomAD v4: 4-99127338-CTG-C
• MyVariant Identifiers: chr4:g.100048490_100048491del (hg19) ; chr4:g.99127339_99127340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127339_99127340del , CM000666.2:g.99127339_99127340del	GRCh38
NC_000004.11:g.100048490_100048491del , CM000666.1:g.100048490_100048491del	GRCh37
NC_000004.10:g.100267513_100267514del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.848_849del MANE Select	ENSP00000265512.7:p.Ala283GlyfsTer21
ENST00000265512.11:c.848_849del	ENSP00000265512.7:p.Ala283GlyfsTer21
ENST00000505590.5:c.905_906del	ENSP00000425416.1:p.Ala302GlyfsTer21
ENST00000506705.5:c.*822_*823del	ENSP00000426667.1:n.*822_*823del
ENST00000508393.5:c.905_906del	ENSP00000424630.1:p.Ala302GlyfsTer21
ENST00000509471.5:c.334-608_334-607del	ENSP00000424583.1:n.334-608_334-607del
ENST00000629236.2:c.848_849del	ENSP00000486450.1:p.Ala283GlyfsTer21
NM_000670.3:c.848_849del	NP_000661.2:p.Ala283GlyfsTer21
NM_000670.4:c.848_849del	NP_000661.2:p.Ala283GlyfsTer21
NM_001306171.1:c.905_906del	NP_001293100.1:p.Ala302GlyfsTer21
NM_001306172.1:c.905_906del	NP_001293101.1:p.Ala302GlyfsTer21
NR_037884.1:n.429-6216_429-6215del
XR_938685.1:n.1076_1077del
XR_938686.1:n.1067_1068del
XR_938687.1:n.940_941del
NM_000670.5:c.848_849del MANE Select	NP_000661.2:p.Ala283GlyfsTer21
NM_001306171.2:c.905_906del	NP_001293100.1:p.Ala302GlyfsTer21
NM_001306172.2:c.905_906del	NP_001293101.1:p.Ala302GlyfsTer21