Canonical Allele Identifier: CA1743604142
Gene: MKLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215406C= , CM000669.2:g.131215406C= GRCh38
NC_000007.13:g.130900165C= , CM000669.1:g.130900165C= GRCh37
NC_000007.12:g.130550705C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416992.6:c.-179+12432C= ENSP00000387920.1:n.-179+12432C=
ENST00000421797.6:c.-179+72465C= ENSP00000398094.2:n.-179+72465C=
NM_001145354.1:c.29+72465C= NP_001138826.1:n.29+72465C=
XM_024446767.1:c.-179+12432C= XP_024302535.1:n.-179+12432C=
NM_001145354.2:c.29+72465C= NP_001138826.1:n.29+72465C=
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