Canonical Allele Identifier: CA3020901
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs543158429
ExAC: 4:100349669 CCTT / C
gnomAD v2: 4-100349669-CCTT-C
gnomAD v3: 4-99428512-CCTT-C
gnomAD v4: 4-99428512-CCTT-C
MyVariant Identifiers: chr4:g.100349670_100349672del (hg19) chr4:g.99428514_99428516del (hg38) chr4:g.99428513_99428515del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99428515_99428517del , CM000666.2:g.99428515_99428517del GRCh38
NC_000004.11:g.100349672_100349674del , CM000666.1:g.100349672_100349674del GRCh37
NC_000004.10:g.100568695_100568697del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.236_238del MANE Select ENSP00000414254.2:p.Glu79del
ENST00000209665.8:c.272_274del ENSP00000209665.4:p.Glu91del
ENST00000437033.6:c.236_238del ENSP00000414254.2:p.Glu79del
ENST00000474027.1:c.65_67del ENSP00000420300.1:p.Glu22del
ENST00000476959.5:c.296_298del ENSP00000420269.1:p.Glu99del
ENST00000482593.5:c.65_67del ENSP00000420613.1:p.Glu22del
NM_000673.4:c.272_274del NP_000664.2:p.Glu91del
NM_001166504.1:c.296_298del NP_001159976.1:p.Glu99del
NM_000673.7:c.236_238del MANE Select NP_000664.3:p.Glu79del
NM_001166504.2:c.296_298del NP_001159976.1:p.Glu99del
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