Canonical Allele Identifier: CA2788455198
Gene: SGPL1 HGNC NCBI
PCBD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70883830dup , CM000672.2:g.70883830dup GRCh38
NC_000010.10:g.72643587dup , CM000672.1:g.72643587dup GRCh37
NC_000010.9:g.72313593dup NCBI36
NG_008646.1:g.9955dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697988.1:c.571-9929dup (SGPL1) ENSP00000513492.1:n.571-9929dup
ENST00000299299.4:c.*120dup (PCBD1) MANE Select ENSP00000299299.3:n.*120dup
ENST00000299299.3:c.*120dup (PCBD1) ENSP00000299299.3:n.*120dup
ENST00000493961.5:n.183+1322dup (PCBD1)
NM_000281.3:c.*120dup (PCBD1) NP_000272.1:n.*120dup
NM_001289797.1:c.*120dup (PCBD1) NP_001276726.1:n.*120dup
XM_005269877.1:c.216+1322dup (PCBD1) XP_005269934.1:n.216+1322dup
NM_001323004.1:c.216+1322dup (PCBD1) NP_001309933.1:n.216+1322dup
NM_000281.4:c.*120dup (PCBD1) MANE Select NP_000272.1:n.*120dup
NM_001289797.2:c.*120dup (PCBD1) NP_001276726.1:n.*120dup
NM_001323004.2:c.216+1322dup (PCBD1) NP_001309933.1:n.216+1322dup
Search 100 bp 5'
Search 100 bp 3'