Canonical Allele Identifier: CA632627053

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs1188063501
• gnomAD v2: 19-18980046-T-TCCGGGGCTG
• gnomAD v3: 19-18869237-T-TCCGGGGCTG
• gnomAD v4: 19-18869237-T-TCCGGGGCTG
• MyVariant Identifiers: chr19:g.18980046_18980047insCCGGGGCTG (hg19) ; chr19:g.18869237_18869238insCCGGGGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869241_18869249dup , CM000681.2:g.18869241_18869249dup	GRCh38
NC_000019.9:g.18980050_18980058dup , CM000681.1:g.18980050_18980058dup	GRCh37
NC_000019.8:g.18841050_18841058dup	NCBI36
NG_012070.1:g.31899_31907dup
NG_033056.1:g.31899_31907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*739_*747dup (CERS1) MANE Select	ENSP00000485308.1:n.*739_*747dup
ENST00000247005.8:c.470_478dup (GDF1) MANE Select	ENSP00000247005.5:p.Pro159_Glu160insAlaAlaPro
ENST00000247005.7:c.470_478dup (GDF1)	ENSP00000247005.5:p.Pro159_Glu160insAlaAlaPro
ENST00000623882.3:c.*739_*747dup (CERS1)	ENSP00000485308.1:n.*739_*747dup
ENST00000623927.1:c.470_478dup (CERS1)	ENSP00000485582.1:p.Pro159_Glu160insAlaAlaPro
NM_001492.5:c.470_478dup (GDF1)	NP_001483.3:p.Pro159_Glu160insAlaAlaPro
NM_021267.4:c.*739_*747dup (CERS1)	NP_067090.1:n.*739_*747dup
NM_001492.6:c.470_478dup (GDF1) MANE Select	NP_001483.3:p.Pro159_Glu160insAlaAlaPro
NM_021267.5:c.*739_*747dup (CERS1) MANE Select	NP_067090.1:n.*739_*747dup
NM_001387438.1:c.470_478dup (GDF1)	NP_001374367.1:p.Pro159_Glu160insAlaAlaPro
NM_001387440.1:c.*1331_*1339dup (CERS1)	NP_001374369.1:n.*1331_*1339dup