Canonical Allele Identifier: CA2583634791

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869245-T-TGCCGCCGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869251_18869262dup , CM000681.2:g.18869251_18869262dup	GRCh38
NC_000019.9:g.18980060_18980071dup , CM000681.1:g.18980060_18980071dup	GRCh37
NC_000019.8:g.18841060_18841071dup	NCBI36
NG_012070.1:g.31888_31899dup
NG_033056.1:g.31888_31899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*728_*739dup (CERS1) MANE Select	ENSP00000485308.1:n.*728_*739dup
ENST00000247005.8:c.459_470dup (GDF1) MANE Select	ENSP00000247005.5:p.Ala157_Ala158insAlaAlaAlaAla
ENST00000247005.7:c.459_470dup (GDF1)	ENSP00000247005.5:p.Ala157_Ala158insAlaAlaAlaAla
ENST00000623882.3:c.*728_*739dup (CERS1)	ENSP00000485308.1:n.*728_*739dup
ENST00000623927.1:c.459_470dup (CERS1)	ENSP00000485582.1:p.Ala157_Ala158insAlaAlaAlaAla
NM_001492.5:c.459_470dup (GDF1)	NP_001483.3:p.Ala157_Ala158insAlaAlaAlaAla
NM_021267.4:c.*728_*739dup (CERS1)	NP_067090.1:n.*728_*739dup
NM_001492.6:c.459_470dup (GDF1) MANE Select	NP_001483.3:p.Ala157_Ala158insAlaAlaAlaAla
NM_021267.5:c.*728_*739dup (CERS1) MANE Select	NP_067090.1:n.*728_*739dup
NM_001387438.1:c.459_470dup (GDF1)	NP_001374367.1:p.Ala157_Ala158insAlaAlaAlaAla
NM_001387440.1:c.*1320_*1331dup (CERS1)	NP_001374369.1:n.*1320_*1331dup