Canonical Allele Identifier: CA2583634788

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869242-G-GGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869245_18869247dup , CM000681.2:g.18869245_18869247dup	GRCh38
NC_000019.9:g.18980054_18980056dup , CM000681.1:g.18980054_18980056dup	GRCh37
NC_000019.8:g.18841054_18841056dup	NCBI36
NG_012070.1:g.31900_31902dup
NG_033056.1:g.31900_31902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*740_*742dup (CERS1) MANE Select	ENSP00000485308.1:n.*740_*742dup
ENST00000247005.8:c.471_473dup (GDF1) MANE Select	ENSP00000247005.5:p.Ala158_Pro159insAla
ENST00000247005.7:c.471_473dup (GDF1)	ENSP00000247005.5:p.Ala158_Pro159insAla
ENST00000623882.3:c.*740_*742dup (CERS1)	ENSP00000485308.1:n.*740_*742dup
ENST00000623927.1:c.471_473dup (CERS1)	ENSP00000485582.1:p.Ala158_Pro159insAla
NM_001492.5:c.471_473dup (GDF1)	NP_001483.3:p.Ala158_Pro159insAla
NM_021267.4:c.*740_*742dup (CERS1)	NP_067090.1:n.*740_*742dup
NM_001492.6:c.471_473dup (GDF1) MANE Select	NP_001483.3:p.Ala158_Pro159insAla
NM_021267.5:c.*740_*742dup (CERS1) MANE Select	NP_067090.1:n.*740_*742dup
NM_001387438.1:c.471_473dup (GDF1)	NP_001374367.1:p.Ala158_Pro159insAla
NM_001387440.1:c.*1332_*1334dup (CERS1)	NP_001374369.1:n.*1332_*1334dup