Canonical Allele Identifier: CA2573052760

Gene: AP4M1 MCM7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100101767_100101768del , CM000669.2:g.100101767_100101768del	GRCh38
NC_000007.13:g.99699390_99699391del , CM000669.1:g.99699390_99699391del	GRCh37
NC_000007.12:g.99537326_99537327del	NCBI36
NG_016312.1:g.5261_5262del

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.53_54del (AP4M1) MANE Select	NP_004713.2:p.Lys18ArgfsTer?
ENST00000359593.9:c.53_54del (AP4M1) MANE Select	ENSP00000352603.4:p.Lys18ArgfsTer?
NM_001278595.1:c.-1076_-1075del (MCM7)	NP_001265524.1:n.-1076_-1075del
NM_001363671.1:c.53_54del (AP4M1)	NP_001350600.1:p.Lys18ArgfsTer?
NM_001363671.2:c.53_54del (AP4M1)	NP_001350600.1:p.Lys18ArgfsTer?
NM_004722.3:c.53_54del (AP4M1)	NP_004713.2:p.Lys18ArgfsTer?
NM_005916.4:c.-473_-472del (MCM7)	NP_005907.3:n.-473_-472del
ENST00000303887.9:c.-473_-472del (MCM7)	ENSP00000307288.5:n.-473_-472del
ENST00000343023.10:c.-473_-472del (MCM7)	ENSP00000344006.6:n.-473_-472del
ENST00000359593.8:c.53_54del (AP4M1)	ENSP00000352603.4:p.Lys18ArgfsTer?
ENST00000394061.7:c.53_54del (AP4M1)	ENSP00000377625.3:p.Lys18ArgfsTer?
ENST00000421755.5:c.53_54del (AP4M1)	ENSP00000412185.1:p.Lys18ArgfsTer?
ENST00000429084.5:c.53_54del (AP4M1)	ENSP00000403663.1:p.Lys18ArgfsTer?
ENST00000438383.5:c.53_54del (AP4M1)	ENSP00000401613.1:p.Lys18ArgfsTer?
ENST00000439416.5:c.53_54del (AP4M1)	ENSP00000414286.1:p.Lys18ArgfsTer?
ENST00000445208.5:c.53_54del (AP4M1)	ENSP00000400598.1:p.Lys18ArgfsTer?
ENST00000445295.2:c.53_54del (AP4M1)	ENSP00000393723.2:p.Lys18ArgfsTer?
ENST00000446007.5:c.53_54del (AP4M1)	ENSP00000396928.1:p.Lys18ArgfsTer?
ENST00000478501.5:n.132_133del (AP4M1)
ENST00000489841.6:n.174_175del (MCM7)
ENST00000621318.4:c.-1076_-1075del (MCM7)	ENSP00000483795.1:n.-1076_-1075del
ENST00000713591.1:c.53_54del (AP4M1)	ENSP00000518888.1:p.Lys18ArgfsTer?
XM_005250689.3:c.53_54del (AP4M1)	XP_005250746.1:p.Lys18ArgfsTer?
XM_005250689.4:c.53_54del (AP4M1)	XP_005250746.1:p.Lys18ArgfsTer?
XM_005250690.3:c.53_54del (AP4M1)	XP_005250747.1:p.Lys18ArgfsTer?
XM_005250690.4:c.53_54del (AP4M1)	XP_005250747.1:p.Lys18ArgfsTer?
XM_006716175.2:c.53_54del (AP4M1)	XP_006716238.1:p.Lys18ArgfsTer?
XM_006716175.4:c.53_54del (AP4M1)	XP_006716238.1:p.Lys18ArgfsTer?
XM_011516685.1:c.53_54del (AP4M1)	XP_011514987.1:p.Lys18ArgfsTer?
XM_011516686.1:c.-407_-406del (AP4M1)	XP_011514988.1:n.-407_-406del
XM_017012791.2:c.-352_-351del (AP4M1)	XP_016868280.1:n.-352_-351del
XM_024446995.1:c.53_54del (AP4M1)	XP_024302763.1:p.Lys18ArgfsTer?