Canonical Allele Identifier: CA577989029
Gene: MKLN1 HGNC NCBI

Linked Data

dbSNP Id: rs11339275
gnomAD v2: 7-130812964-CAA-C
gnomAD v3: 7-131128205-CAA-C
gnomAD v4: 7-131128205-CAA-C
MyVariant Identifiers: chr7:g.130812965_130812966del (hg19) chr7:g.131128206_131128207del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128220_131128221del , CM000669.2:g.131128220_131128221del GRCh38
NC_000007.13:g.130812979_130812980del , CM000669.1:g.130812979_130812980del GRCh37
NC_000007.12:g.130463519_130463520del NCBI36

Transcript Alleles

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