Canonical Allele Identifier: CA1053149039

Gene: ZNF148

Linked Data

• gnomAD v3: 3-125232641-GTT-G
• gnomAD v4: 3-125232641-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.125232643_125232644del , CM000665.2:g.125232643_125232644del	GRCh38
NC_000003.11:g.124951487_124951488del , CM000665.1:g.124951487_124951488del	GRCh37
NC_000003.10:g.126434177_126434178del	NCBI36
NG_052987.1:g.147712_147713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471196.2:c.2083_2084del	ENSP00000420038.2:p.Asn695ProfsTer21
ENST00000700044.1:c.2083_2084del	ENSP00000514760.1:p.Asn695ProfsTer21
ENST00000360647.9:c.2083_2084del MANE Select	ENSP00000353863.4:p.Asn695ProfsTer21
ENST00000360647.8:c.2083_2084del	ENSP00000353863.4:p.Asn695ProfsTer21
ENST00000468369.5:c.133_134del	ENSP00000420102.1:p.Asn45ProfsTer21
ENST00000484491.5:c.2083_2084del	ENSP00000420335.1:p.Asn695ProfsTer21
ENST00000485866.5:c.2083_2084del	ENSP00000420448.1:p.Asn695ProfsTer21
ENST00000492394.5:c.2083_2084del	ENSP00000419322.1:p.Asn695ProfsTer21
ENST00000496732.1:n.185_186del
ENST00000497929.1:n.2079_2080del
NM_021964.2:c.2083_2084del	NP_068799.2:p.Asn695ProfsTer21
NM_001348424.1:c.2083_2084del	NP_001335353.1:p.Asn695ProfsTer21
NM_001348425.2:c.2083_2084del	NP_001335354.1:p.Asn695ProfsTer21
NM_001348426.2:c.2083_2084del	NP_001335355.1:p.Asn695ProfsTer21
NM_001348427.2:c.2083_2084del	NP_001335356.1:p.Asn695ProfsTer21
NM_001348428.2:c.2083_2084del	NP_001335357.1:p.Asn695ProfsTer21
NM_001348429.2:c.2083_2084del	NP_001335358.1:p.Asn695ProfsTer21
NM_001348430.2:c.2083_2084del	NP_001335359.1:p.Asn695ProfsTer21
NM_001348431.2:c.2083_2084del	NP_001335360.1:p.Asn695ProfsTer21
NM_001348432.2:c.2083_2084del	NP_001335361.1:p.Asn695ProfsTer21
NM_001348433.2:c.2083_2084del	NP_001335362.1:p.Asn695ProfsTer21
NM_001348434.2:c.1957_1958del	NP_001335363.1:p.Asn653ProfsTer21
NM_021964.3:c.2083_2084del MANE Select	NP_068799.2:p.Asn695ProfsTer21