Canonical Allele Identifier: CA2541949040
Gene: MKLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128220_131128221insCA , CM000669.2:g.131128220_131128221insCA GRCh38
NC_000007.13:g.130812979_130812980insCA , CM000669.1:g.130812979_130812980insCA GRCh37
NC_000007.12:g.130463519_130463520insCA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-418-14600_-418-14599insCA ENSP00000387920.1:n.-418-14600_-418-14599insCA
ENST00000421797.6:c.-300-14600_-300-14599insCA ENSP00000398094.2:n.-300-14600_-300-14599insCA
NM_001145354.1:c.-93-14600_-93-14599insCA NP_001138826.1:n.-93-14600_-93-14599insCA
XM_024446767.1:c.-418-14600_-418-14599insCA XP_024302535.1:n.-418-14600_-418-14599insCA
NM_001145354.2:c.-93-14600_-93-14599insCA NP_001138826.1:n.-93-14600_-93-14599insCA
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