Canonical Allele Identifier: CA1743603919

Gene: MKLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131215222_131215223delinsAT , CM000669.2:g.131215222_131215223delinsAT	GRCh38
NC_000007.13:g.130899981_130899982delinsAT , CM000669.1:g.130899981_130899982delinsAT	GRCh37
NC_000007.12:g.130550521_130550522delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416992.6:c.-179+12248_-179+12249delinsAT	ENSP00000387920.1:n.-179+12248_-179+12249delinsAT
ENST00000421797.6:c.-179+72281_-179+72282delinsAT	ENSP00000398094.2:n.-179+72281_-179+72282delinsAT
NM_001145354.1:c.29+72281_29+72282delinsAT	NP_001138826.1:n.29+72281_29+72282delinsAT
XM_024446767.1:c.-179+12248_-179+12249delinsAT	XP_024302535.1:n.-179+12248_-179+12249delinsAT
NM_001145354.2:c.29+72281_29+72282delinsAT	NP_001138826.1:n.29+72281_29+72282delinsAT