Canonical Allele Identifier: CA1743703858

Gene: MKLN1

Linked Data

• dbSNP Id: rs1795099210

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418678_131418679del , CM000669.2:g.131418678_131418679del	GRCh38
NC_000007.13:g.131103437_131103438del , CM000669.1:g.131103437_131103438del	GRCh37
NC_000007.12:g.130753977_130753978del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352689.11:c.847+3968_847+3969del MANE Select	ENSP00000323527.6:n.847+3968_847+3969del
ENST00000352689.10:c.847+3968_847+3969del	ENSP00000323527.6:n.847+3968_847+3969del
ENST00000421797.6:c.571+3968_571+3969del	ENSP00000398094.2:n.571+3968_571+3969del
ENST00000458153.5:c.*337+3968_*337+3969del	ENSP00000407705.1:n.*337+3968_*337+3969del
ENST00000494785.5:n.864+3968_864+3969del
NM_001145354.1:c.778+3968_778+3969del	NP_001138826.1:n.778+3968_778+3969del
NM_013255.4:c.847+3968_847+3969del	NP_037387.2:n.847+3968_847+3969del
XM_005250356.1:c.226+3968_226+3969del	XP_005250413.1:n.226+3968_226+3969del
XM_006715993.1:c.847+3968_847+3969del	XP_006716056.1:n.847+3968_847+3969del
XM_011516224.1:c.847+3968_847+3969del	XP_011514526.1:n.847+3968_847+3969del
NM_001321316.1:c.226+3968_226+3969del	NP_001308245.1:n.226+3968_226+3969del
XM_006715993.3:c.847+3968_847+3969del	XP_006716056.1:n.847+3968_847+3969del
XM_011516224.3:c.847+3968_847+3969del	XP_011514526.1:n.847+3968_847+3969del
XM_024446766.1:c.571+3968_571+3969del	XP_024302534.1:n.571+3968_571+3969del
XM_024446767.1:c.571+3968_571+3969del	XP_024302535.1:n.571+3968_571+3969del
NM_013255.5:c.847+3968_847+3969del MANE Select	NP_037387.2:n.847+3968_847+3969del
NM_001145354.2:c.778+3968_778+3969del	NP_001138826.1:n.778+3968_778+3969del
NM_001321316.2:c.226+3968_226+3969del	NP_001308245.1:n.226+3968_226+3969del