Canonical Allele Identifier: CA2580071276

Gene: MANBA

Linked Data

• ClinVar Variation Id: 1995347
• ClinVar RCV Id: RCV002796522

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102760785_102760909del , CM000666.2:g.102760785_102760909del	GRCh38
NC_000004.11:g.103681942_103682066del , CM000666.1:g.103681942_103682066del	GRCh37
NC_000004.10:g.103900987_103901111del	NCBI36
NG_012804.1:g.5088_5212del
NG_012804.2:g.5088_5212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.-13_112del
ENST00000644159.1:c.-13_112del
ENST00000644545.1:c.-13_112del
ENST00000644965.1:c.-13_112del
ENST00000645348.1:c.-13_112del
ENST00000646311.1:c.-13_112del
ENST00000646727.1:c.-13_112del
ENST00000647097.2:c.-13_112del
ENST00000226578.8:c.-13_112del
ENST00000505239.1:c.-13_112del
ENST00000507358.1:n.88_212del
ENST00000511813.1:c.-13_112del
ENST00000514430.5:n.35_159del
NM_005908.3:c.-13_112del
XM_017008204.2:c.-537_-413del	XP_016863693.1:n.-537_-413del
NM_005908.4:c.-13_112del