Canonical Allele Identifier: CA577989023
Gene: MKLN1 HGNC NCBI

Linked Data

gnomAD v2: 7-130812961-AT-A
gnomAD v3: 7-131128202-AT-A
gnomAD v4: 7-131128202-AT-A
MyVariant Identifiers: chr7:g.130812962del (hg19) chr7:g.131128203del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128204del , CM000669.2:g.131128204del GRCh38
NC_000007.13:g.130812963del , CM000669.1:g.130812963del GRCh37
NC_000007.12:g.130463503del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-418-14616del ENSP00000387920.1:n.-418-14616del
ENST00000421797.6:c.-300-14616del ENSP00000398094.2:n.-300-14616del
NM_001145354.1:c.-93-14616del NP_001138826.1:n.-93-14616del
XM_024446767.1:c.-418-14616del XP_024302535.1:n.-418-14616del
NM_001145354.2:c.-93-14616del NP_001138826.1:n.-93-14616del
Search 100 bp 5'
Search 100 bp 3'