Canonical Allele Identifier: CA2609538991

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70883951dup , CM000672.2:g.70883951dup GRCh38
NC_000010.10:g.72643708dup , CM000672.1:g.72643708dup GRCh37
NC_000010.9:g.72313714dup NCBI36
NG_008646.1:g.9834dup

Transcript Alleles

HGVS Amino-acid change
ENST00000697988.1:c.571-9808dup (SGPL1) ENSP00000513492.1:n.571-9808dup
ENST00000299299.4:c.314dup (PCBD1) MANE Select ENSP00000299299.3:p.Ter105=
ENST00000299299.3:c.314dup (PCBD1) ENSP00000299299.3:p.Ter105=
ENST00000493228.1:n.713dup (PCBD1)
ENST00000493961.5:n.183+1201dup (PCBD1)
NM_000281.3:c.314dup (PCBD1) NP_000272.1:p.Ter105=
NM_001289797.1:c.167dup (PCBD1) NP_001276726.1:p.Ter56=
XM_005269877.1:c.216+1201dup (PCBD1) XP_005269934.1:n.216+1201dup
NM_001323004.1:c.216+1201dup (PCBD1) NP_001309933.1:n.216+1201dup
NM_000281.4:c.314dup (PCBD1) MANE Select NP_000272.1:p.Ter105=
NM_001289797.2:c.167dup (PCBD1) NP_001276726.1:p.Ter56=
NM_001323004.2:c.216+1201dup (PCBD1) NP_001309933.1:n.216+1201dup