Canonical Allele Identifier: CA339898
Gene: BLOC1S3 HGNC NCBI
MARK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45179744del , CM000681.2:g.45179744del GRCh38
NC_000019.9:g.45683002del , CM000681.1:g.45683002del GRCh37
NC_000019.8:g.50374842del NCBI36
NG_008372.1:g.6000del , LRG_546:g.6000del
NG_033044.1:g.3502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433642.3:c.448del (BLOC1S3) MANE Select ENSP00000393840.1:p.Gln150ArgfsTer?
ENST00000433642.2:c.448del (BLOC1S3) ENSP00000393840.1:p.Gln150ArgfsTer?
ENST00000587566.5:c.-276-79245del (MARK4) ENSP00000465414.1:n.-276-79245del
ENST00000587722.1:c.448del (BLOC1S3) ENSP00000468281.1:p.Gln150ArgfsTer?
ENST00000592910.1:c.76del (BLOC1S3) ENSP00000466798.1:p.Gln26ArgfsTer?
NM_212550.3:c.448del (BLOC1S3) NP_997715.1:p.Gln150ArgfsTer?
NM_212550.4:c.448del , LRG_546t1:c.448del (BLOC1S3) NP_997715.1:p.Gln150ArgfsTer?
XM_011526952.1:c.448del (BLOC1S3) XP_011525254.1:p.Gln150ArgfsTer?
XR_935826.1:n.952del (BLOC1S3)
XR_935827.1:n.952del (BLOC1S3)
XR_935828.1:n.952del (BLOC1S3)
XR_935829.1:n.952del (BLOC1S3)
XR_001753683.1:n.952del (BLOC1S3)
NM_212550.5:c.448del (BLOC1S3) MANE Select NP_997715.1:p.Gln150ArgfsTer?