Canonical Allele Identifier: CA203599
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215496
ClinVar RCV Id: RCV000180220 RCV000200398 RCV001640299 RCV000860512
dbSNP Id: rs571387097
ExAC: 19:18980054 T / TGCC
gnomAD v2: 19-18980054-T-TGCC
gnomAD v3: 19-18869245-T-TGCC
gnomAD v4: 19-18869245-T-TGCC
COSMIC: COSM4993599 COSM4993600
MyVariant Identifiers: chr19:g.18980055_18980057dupGCC (hg19) chr19:g.18980063_18980064insGCC (hg19) chr19:g.18980057_18980058insGCC (hg19) chr19:g.18980054_18980055insGCC (hg19) chr19:g.18869246_18869248dupGCC (hg38) chr19:g.18869254_18869255insGCC (hg38) chr19:g.18869245_18869246insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869260_18869262dup , CM000681.2:g.18869260_18869262dup GRCh38
NC_000019.9:g.18980069_18980071dup , CM000681.1:g.18980069_18980071dup GRCh37
NC_000019.8:g.18841069_18841071dup NCBI36
NG_012070.1:g.31897_31899dup
NG_033056.1:g.31897_31899dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*737_*739dup (CERS1) MANE Select ENSP00000485308.1:n.*737_*739dup
ENST00000247005.8:c.468_470dup (GDF1) MANE Select ENSP00000247005.5:p.Ala157_Ala158insAla
ENST00000247005.7:c.468_470dup (GDF1) ENSP00000247005.5:p.Ala157_Ala158insAla
ENST00000623882.3:c.*737_*739dup (CERS1) ENSP00000485308.1:n.*737_*739dup
ENST00000623927.1:c.468_470dup (CERS1) ENSP00000485582.1:p.Ala157_Ala158insAla
NM_001492.5:c.468_470dup (GDF1) NP_001483.3:p.Ala157_Ala158insAla
NM_021267.4:c.*737_*739dup (CERS1) NP_067090.1:n.*737_*739dup
NM_001492.6:c.468_470dup (GDF1) MANE Select NP_001483.3:p.Ala157_Ala158insAla
NM_021267.5:c.*737_*739dup (CERS1) MANE Select NP_067090.1:n.*737_*739dup
NM_001387438.1:c.468_470dup (GDF1) NP_001374367.1:p.Ala157_Ala158insAla
NM_001387440.1:c.*1329_*1331dup (CERS1) NP_001374369.1:n.*1329_*1331dup
Search 100 bp 5'
Search 100 bp 3'