Canonical Allele Identifier: CA1743703977

Gene: MKLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418774_131418775delinsCA , CM000669.2:g.131418774_131418775delinsCA	GRCh38
NC_000007.13:g.131103533_131103534delinsCA , CM000669.1:g.131103533_131103534delinsCA	GRCh37
NC_000007.12:g.130754073_130754074delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000352689.11:c.847+4064_847+4065delinsCA MANE Select	ENSP00000323527.6:n.847+4064_847+4065delinsCA
ENST00000352689.10:c.847+4064_847+4065delinsCA	ENSP00000323527.6:n.847+4064_847+4065delinsCA
ENST00000421797.6:c.571+4064_571+4065delinsCA	ENSP00000398094.2:n.571+4064_571+4065delinsCA
ENST00000458153.5:c.*337+4064_*337+4065delinsCA	ENSP00000407705.1:n.*337+4064_*337+4065delinsCA
ENST00000494785.5:n.864+4064_864+4065delinsCA
NM_001145354.1:c.778+4064_778+4065delinsCA	NP_001138826.1:n.778+4064_778+4065delinsCA
NM_013255.4:c.847+4064_847+4065delinsCA	NP_037387.2:n.847+4064_847+4065delinsCA
XM_005250356.1:c.226+4064_226+4065delinsCA	XP_005250413.1:n.226+4064_226+4065delinsCA
XM_006715993.1:c.847+4064_847+4065delinsCA	XP_006716056.1:n.847+4064_847+4065delinsCA
XM_011516224.1:c.847+4064_847+4065delinsCA	XP_011514526.1:n.847+4064_847+4065delinsCA
NM_001321316.1:c.226+4064_226+4065delinsCA	NP_001308245.1:n.226+4064_226+4065delinsCA
XM_006715993.3:c.847+4064_847+4065delinsCA	XP_006716056.1:n.847+4064_847+4065delinsCA
XM_011516224.3:c.847+4064_847+4065delinsCA	XP_011514526.1:n.847+4064_847+4065delinsCA
XM_024446766.1:c.571+4064_571+4065delinsCA	XP_024302534.1:n.571+4064_571+4065delinsCA
XM_024446767.1:c.571+4064_571+4065delinsCA	XP_024302535.1:n.571+4064_571+4065delinsCA
NM_013255.5:c.847+4064_847+4065delinsCA MANE Select	NP_037387.2:n.847+4064_847+4065delinsCA
NM_001145354.2:c.778+4064_778+4065delinsCA	NP_001138826.1:n.778+4064_778+4065delinsCA
NM_001321316.2:c.226+4064_226+4065delinsCA	NP_001308245.1:n.226+4064_226+4065delinsCA