Canonical Allele Identifier: CA2671506636
Gene: ADH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99124454del , CM000666.2:g.99124454del GRCh38
NC_000004.11:g.100045605del , CM000666.1:g.100045605del GRCh37
NC_000004.10:g.100264628del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.1132del MANE Select ENSP00000265512.7:p.Leu378SerfsTer28
ENST00000265512.11:c.1132del ENSP00000265512.7:p.Leu378SerfsTer28
ENST00000505590.5:c.1189del ENSP00000425416.1:p.Leu397SerfsTer?
ENST00000508393.5:c.1189del ENSP00000424630.1:p.Leu397SerfsTer28
ENST00000509471.5:c.486del ENSP00000424583.1:n.486del
ENST00000629236.2:c.1132del ENSP00000486450.1:p.Leu378SerfsTer27
NM_000670.3:c.1132del NP_000661.2:p.Leu378SerfsTer28
NM_000670.4:c.1132del NP_000661.2:p.Leu378SerfsTer28
NM_001306171.1:c.1189del NP_001293100.1:p.Leu397SerfsTer28
NM_001306172.1:c.1189del NP_001293101.1:p.Leu397SerfsTer28
NR_037884.1:n.429-9101del
XR_938685.1:n.1471del
XR_938686.1:n.1462del
XR_938687.1:n.1335del
NM_000670.5:c.1132del MANE Select NP_000661.2:p.Leu378SerfsTer28
NM_001306171.2:c.1189del NP_001293100.1:p.Leu397SerfsTer28
NM_001306172.2:c.1189del NP_001293101.1:p.Leu397SerfsTer28