Canonical Allele Identifier: CA1616424660

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24357700C= , CM000668.2:g.24357700C= GRCh38
NC_000006.11:g.24357928C= , CM000668.1:g.24357928C= GRCh37
NC_000006.10:g.24465907C= NCBI36
NG_012829.1:g.5353G=
NG_012829.2:g.30593G=

Transcript Alleles

HGVS Amino-acid Change
NM_016356.5:c.51G= (DCDC2) MANE Select NP_057440.2:p.Lys17=
ENST00000378454.8:c.51G= (DCDC2) MANE Select ENSP00000367715.3:p.Lys17=
NM_001195610.1:c.51G= (DCDC2) NP_001182539.1:p.Lys17=
NM_001195610.2:c.51G= (DCDC2) NP_001182539.1:p.Lys17=
NM_016356.4:c.51G= (DCDC2) NP_057440.2:p.Lys17=
NM_181337.3:c.61C= (KAAG1) NP_851854.1:p.Leu21=
NM_181337.4:c.61C= (KAAG1) NP_851854.1:p.Leu21=
NR_174942.1:n.798C= (KAAG1)
ENST00000274766.1:c.61C= (KAAG1) ENSP00000274766.1:p.Leu21=
ENST00000274766.2:c.61C= (KAAG1) ENSP00000274766.1:p.Leu21=
ENST00000378454.7:c.51G= (DCDC2) ENSP00000367715.3:p.Lys17=