Canonical Allele Identifier: CA600868178

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95821958_95821960del , CM000673.2:g.95821958_95821960del	GRCh38
NC_000011.9:g.95555122_95555124del , CM000673.1:g.95555122_95555124del	GRCh37
NC_000011.8:g.95194770_95194772del	NCBI36
NG_029829.1:g.36498_36500del , LRG_526:g.36498_36500del

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.787_789del (CEP57) MANE Select	NP_055494.2:p.Lys263del
ENST00000325542.10:c.787_789del (CEP57) MANE Select	ENSP00000317902.5:p.Lys263del
NM_001243776.1:c.760_762del (CEP57)	NP_001230705.1:p.Lys254del
NM_001243776.2:c.760_762del (CEP57)	NP_001230705.1:p.Lys254del
NM_001243777.1:c.787_789del (CEP57)	NP_001230706.1:p.Lys263del
NM_001243777.2:c.787_789del (CEP57)	NP_001230706.1:p.Lys263del
NM_001363604.1:c.706_708del (CEP57)	NP_001350533.1:p.Lys236del
NM_001363604.2:c.706_708del (CEP57)	NP_001350533.1:p.Lys236del
NM_014679.4:c.787_789del (CEP57)	NP_055494.2:p.Lys263del
ENST00000325486.9:c.787_789del (CEP57)	ENSP00000317487.5:p.Lys263del
ENST00000325542.9:c.787_789del (CEP57)	ENSP00000317902.5:p.Lys263del
ENST00000535224.1:c.233_235del (CEP57)
ENST00000537093.5:c.162+3054_162+3056del (CEP57)	ENSP00000444749.1:n.162+3054_162+3056del
ENST00000537677.5:c.706_708del (CEP57)	ENSP00000441392.1:p.Lys236del
ENST00000538658.5:c.787_789del (CEP57)	ENSP00000445706.1:p.Lys263del
ENST00000539855.5:c.*566_*568del (CEP57)	ENSP00000437422.1:n.*566_*568del
ENST00000540830.5:c.*551_*553del (CEP57)	ENSP00000440996.1:n.*551_*553del
ENST00000541150.5:c.760_762del (CEP57)	ENSP00000443436.1:p.Lys254del
ENST00000675896.1:c.*4538_*4540del (MTMR2)	ENSP00000502487.1:n.*4538_*4540del
XM_006718945.2:c.670_672del (CEP57)	XP_006719008.1:p.Lys224del
XM_006718945.3:c.670_672del (CEP57)	XP_006719008.1:p.Lys224del
XM_006718946.2:c.699+3054_699+3056del (CEP57)	XP_006719009.1:n.699+3054_699+3056del
XM_006718946.3:c.699+3054_699+3056del (CEP57)	XP_006719009.1:n.699+3054_699+3056del
XM_017018592.1:c.760_762del (CEP57)	XP_016874081.1:p.Lys254del
XM_017018593.2:c.670_672del (CEP57)	XP_016874082.1:p.Lys224del
XM_017018594.2:c.582+3054_582+3056del (CEP57)	XP_016874083.1:n.582+3054_582+3056del
XM_024448779.1:c.589_591del (CEP57)	XP_024304547.1:p.Lys197del
XR_001748050.2:n.1015_1017del (CEP57)