Canonical Allele Identifier: CA633479476
Gene: BLOC1S3 HGNC NCBI
MARK4 HGNC NCBI
MyVariant.info:
GRCh37 chr19:g.45682889_45682892del
gnomAD v2:
19:45682888 CGGCT / C
gnomAD v3:
19:45179630 CGGCT / C
gnomAD v4:
chr19-45179630-CGGCT-C
Joint Max Group AF 8.4e-7 (NFE)
Exomes Max Group AF 7.6e-7 (NFE)
ClinVar Allele:
858792
ClinVar RCV:
RCV001257460
ClinVar Variation:
870630
dbSNP:
1568469902
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45179634_45179637del , CM000681.2:g.45179634_45179637del GRCh38
NC_000019.9:g.45682892_45682895del , CM000681.1:g.45682892_45682895del GRCh37
NC_000019.8:g.50374732_50374735del NCBI36
NG_008372.1:g.5890_5893del , LRG_546:g.5890_5893del
NG_033044.1:g.3610_3613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433642.3:c.338_341del (BLOC1S3) MANE Select ENSP00000393840.1:p.Leu113ArgfsTer15
ENST00000433642.2:c.338_341del (BLOC1S3) ENSP00000393840.1:p.Leu113ArgfsTer15
ENST00000587566.5:c.-276-79355_-276-79352del (MARK4) ENSP00000465414.1:n.-276-79355_-276-79352del
ENST00000587722.1:c.338_341del (BLOC1S3) ENSP00000468281.1:p.Leu113ArgfsTer15
NM_212550.3:c.338_341del (BLOC1S3) NP_997715.1:p.Leu113ArgfsTer15
NM_212550.4:c.338_341del , LRG_546t1:c.338_341del (BLOC1S3) NP_997715.1:p.Leu113ArgfsTer15
XM_011526952.1:c.338_341del (BLOC1S3) XP_011525254.1:p.Leu113ArgfsTer15
XR_935826.1:n.842_845del (BLOC1S3)
XR_935827.1:n.842_845del (BLOC1S3)
XR_935828.1:n.842_845del (BLOC1S3)
XR_935829.1:n.842_845del (BLOC1S3)
XR_001753683.1:n.842_845del (BLOC1S3)
NM_212550.5:c.338_341del (BLOC1S3) MANE Select NP_997715.1:p.Leu113ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'