Canonical Allele Identifier: CA2580618148
Community Standard Title: NM_020338.4(ZMIZ1):c.155_160del (p.Ser52_Leu53del)
Gene: ZMIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79208430_79208435del , CM000672.2:g.79208430_79208435del GRCh38
NC_000010.10:g.80968187_80968192del , CM000672.1:g.80968187_80968192del GRCh37
NC_000010.9:g.80638193_80638198del NCBI36
NG_028289.1:g.144396_144401del

Transcript Alleles

HGVS Amino-acid Change
NM_020338.4:c.155_160del MANE Select NP_065071.1:p.Ser52_Leu53del
ENST00000334512.10:c.155_160del MANE Select ENSP00000334474.5:p.Ser52_Leu53del
NM_020338.3:c.155_160del NP_065071.1:p.Ser52_Leu53del
ENST00000334512.9:c.155_160del ENSP00000334474.5:p.Ser52_Leu53del
ENST00000611351.1:c.155_160del ENSP00000481736.1:p.Ser52_Leu53del
XM_005269987.3:c.155_160del XP_005270044.1:p.Ser52_Leu53del
XM_005269987.5:c.155_160del XP_005270044.1:p.Ser52_Leu53del
XM_005269988.2:c.155_160del XP_005270045.1:p.Ser52_Leu53del
XM_005269988.3:c.155_160del XP_005270045.1:p.Ser52_Leu53del
XM_006717923.2:c.155_160del XP_006717986.1:p.Ser52_Leu53del
XM_006717923.3:c.155_160del XP_006717986.1:p.Ser52_Leu53del
XM_006717924.2:c.155_160del XP_006717987.1:p.Ser52_Leu53del
XM_006717924.3:c.155_160del XP_006717987.1:p.Ser52_Leu53del
XM_006717925.2:c.155_160del XP_006717988.1:p.Ser52_Leu53del
XM_006717925.3:c.155_160del XP_006717988.1:p.Ser52_Leu53del