Canonical Allele Identifier: CA3027170
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102714539_102714548dup , CM000666.2:g.102714539_102714548dup GRCh38
NC_000004.11:g.103635696_103635705dup , CM000666.1:g.103635696_103635705dup GRCh37
NC_000004.10:g.103854745_103854754dup NCBI36
NG_012804.1:g.51447_51456dup
NG_012804.2:g.51447_51456dup

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.563_572dup MANE Select NP_005899.3:p.Trp192Ter
ENST00000647097.2:c.563_572dup MANE Select ENSP00000495247.1:p.Trp192Ter
NM_005908.3:c.563_572dup NP_005899.3:p.Trp192Ter
ENST00000226578.8:c.563_572dup ENSP00000226578.4:p.Trp192Ter
ENST00000505239.1:c.392_401dup ENSP00000427322.1:p.Trp135Ter
ENST00000514430.5:n.610_619dup
ENST00000642252.1:c.563_572dup ENSP00000495483.1:p.Trp192Ter
ENST00000644159.1:c.563_572dup ENSP00000494462.1:p.Trp192Ter
ENST00000644545.1:c.563_572dup ENSP00000493992.1:p.Trp192Ter
ENST00000645348.1:c.563_572dup ENSP00000495363.1:p.Trp192Ter
ENST00000645558.1:c.69_78dup
ENST00000646311.1:c.563_572dup ENSP00000493465.1:p.Trp192Ter
ENST00000646451.1:c.488_497dup ENSP00000495846.1:p.Trp167Ter
ENST00000646727.1:c.563_572dup ENSP00000493519.1:p.Trp192Ter
ENST00000647129.1:c.245_254dup ENSP00000496137.1:p.Trp86Ter
XM_017008203.1:c.200_209dup XP_016863692.1:p.Trp71Ter
XM_017008204.2:c.25+8323_25+8332dup XP_016863693.1:n.25+8323_25+8332dup
XM_024454048.1:c.488_497dup XP_024309816.1:p.Trp167Ter
XM_024454049.1:c.200_209dup XP_024309817.1:p.Trp71Ter