Canonical Allele Identifier: CA645531481

Gene: ADH4

Linked Data

• gnomAD v4: 4-99126594-CT-C
• COSMIC: COSM4747665

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126599del , CM000666.2:g.99126599del	GRCh38
NC_000004.11:g.100047750del , CM000666.1:g.100047750del	GRCh37
NC_000004.10:g.100266773del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1117del MANE Select	ENSP00000265512.7:p.Ser373AlafsTer?
ENST00000265512.11:c.1117del	ENSP00000265512.7:p.Ser373AlafsTer?
ENST00000505590.5:c.1174del	ENSP00000425416.1:p.Ser392AlafsTer?
ENST00000506705.5:c.*1091del	ENSP00000426667.1:n.*1091del
ENST00000508393.5:c.1174del	ENSP00000424630.1:p.Ser392AlafsTer?
ENST00000509471.5:c.471del	ENSP00000424583.1:n.471del
ENST00000629236.2:c.1117del	ENSP00000486450.1:p.Ser373AlafsTer?
NM_000670.3:c.1117del	NP_000661.2:p.Ser373AlafsTer?
NM_000670.4:c.1117del	NP_000661.2:p.Ser373AlafsTer?
NM_001306171.1:c.1174del	NP_001293100.1:p.Ser392AlafsTer?
NM_001306172.1:c.1174del	NP_001293101.1:p.Ser392AlafsTer?
NR_037884.1:n.429-6956del
XR_938685.1:n.1345del
XR_938686.1:n.1336del
XR_938687.1:n.1209del
NM_000670.5:c.1117del MANE Select	NP_000661.2:p.Ser373AlafsTer?
NM_001306171.2:c.1174del	NP_001293100.1:p.Ser392AlafsTer?
NM_001306172.2:c.1174del	NP_001293101.1:p.Ser392AlafsTer?