Canonical Allele Identifier: CA577989040

Gene: MKLN1

Linked Data

• dbSNP Id: rs1394499896
• gnomAD v2: 7-130812980-AC-A
• gnomAD v3: 7-131128221-AC-A
• gnomAD v4: 7-131128221-AC-A
• MyVariant Identifiers: chr7:g.130812981del (hg19) ; chr7:g.130812981_130812984delinsAAC (hg19) ; chr7:g.131128222del (hg38) ; chr7:g.131128222_131128225delinsAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131128222del , CM000669.2:g.131128222del	GRCh38
NC_000007.13:g.130812981del , CM000669.1:g.130812981del	GRCh37
NC_000007.12:g.130463521del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000416992.6:c.-418-14598del	ENSP00000387920.1:n.-418-14598del
ENST00000421797.6:c.-300-14598del	ENSP00000398094.2:n.-300-14598del
NM_001145354.1:c.-93-14598del	NP_001138826.1:n.-93-14598del
XM_024446767.1:c.-418-14598del	XP_024302535.1:n.-418-14598del
NM_001145354.2:c.-93-14598del	NP_001138826.1:n.-93-14598del