Canonical Allele Identifier: CA2777916539
Gene: MKLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128185_131128187del , CM000669.2:g.131128185_131128187del GRCh38
NC_000007.13:g.130812944_130812946del , CM000669.1:g.130812944_130812946del GRCh37
NC_000007.12:g.130463484_130463486del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-418-14635_-418-14633del ENSP00000387920.1:n.-418-14635_-418-14633del
ENST00000421797.6:c.-300-14635_-300-14633del ENSP00000398094.2:n.-300-14635_-300-14633del
NM_001145354.1:c.-93-14635_-93-14633del NP_001138826.1:n.-93-14635_-93-14633del
XM_024446767.1:c.-418-14635_-418-14633del XP_024302535.1:n.-418-14635_-418-14633del
NM_001145354.2:c.-93-14635_-93-14633del NP_001138826.1:n.-93-14635_-93-14633del