Canonical Allele Identifier: CA632627055

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs571387097
• gnomAD v2: 19-18980054-T-TGCCGCCGCC
• gnomAD v3: 19-18869245-T-TGCCGCCGCC
• gnomAD v4: 19-18869245-T-TGCCGCCGCC
• MyVariant Identifiers: chr19:g.18980063_18980064insGCCGCCGCC (hg19) ; chr19:g.18869254_18869255insGCCGCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869254_18869262dup , CM000681.2:g.18869254_18869262dup	GRCh38
NC_000019.9:g.18980063_18980071dup , CM000681.1:g.18980063_18980071dup	GRCh37
NC_000019.8:g.18841063_18841071dup	NCBI36
NG_012070.1:g.31891_31899dup
NG_033056.1:g.31891_31899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*731_*739dup (CERS1) MANE Select	ENSP00000485308.1:n.*731_*739dup
ENST00000247005.8:c.462_470dup (GDF1) MANE Select	ENSP00000247005.5:p.Ala157_Ala158insAlaAlaAla
ENST00000247005.7:c.462_470dup (GDF1)	ENSP00000247005.5:p.Ala157_Ala158insAlaAlaAla
ENST00000623882.3:c.*731_*739dup (CERS1)	ENSP00000485308.1:n.*731_*739dup
ENST00000623927.1:c.462_470dup (CERS1)	ENSP00000485582.1:p.Ala157_Ala158insAlaAlaAla
NM_001492.5:c.462_470dup (GDF1)	NP_001483.3:p.Ala157_Ala158insAlaAlaAla
NM_021267.4:c.*731_*739dup (CERS1)	NP_067090.1:n.*731_*739dup
NM_001492.6:c.462_470dup (GDF1) MANE Select	NP_001483.3:p.Ala157_Ala158insAlaAlaAla
NM_021267.5:c.*731_*739dup (CERS1) MANE Select	NP_067090.1:n.*731_*739dup
NM_001387438.1:c.462_470dup (GDF1)	NP_001374367.1:p.Ala157_Ala158insAlaAlaAla
NM_001387440.1:c.*1323_*1331dup (CERS1)	NP_001374369.1:n.*1323_*1331dup