Canonical Allele Identifier: CA2583634782

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869196-C-CGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869198_18869199insAGC , CM000681.2:g.18869198_18869199insAGC	GRCh38
NC_000019.9:g.18980007_18980008insAGC , CM000681.1:g.18980007_18980008insAGC	GRCh37
NC_000019.8:g.18841007_18841008insAGC	NCBI36
NG_012070.1:g.31948_31949insTGC
NG_033056.1:g.31948_31949insTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*788_*789insTGC (CERS1) MANE Select	ENSP00000485308.1:n.*788_*789insTGC
ENST00000247005.8:c.519_520insTGC (GDF1) MANE Select	ENSP00000247005.5:p.Gly173_Ala174insCys
ENST00000247005.7:c.519_520insTGC (GDF1)	ENSP00000247005.5:p.Gly173_Ala174insCys
ENST00000623882.3:c.*788_*789insTGC (CERS1)	ENSP00000485308.1:n.*788_*789insTGC
ENST00000623927.1:c.519_520insTGC (CERS1)	ENSP00000485582.1:p.Gly173_Ala174insCys
NM_001492.5:c.519_520insTGC (GDF1)	NP_001483.3:p.Gly173_Ala174insCys
NM_021267.4:c.*788_*789insTGC (CERS1)	NP_067090.1:n.*788_*789insTGC
NM_001492.6:c.519_520insTGC (GDF1) MANE Select	NP_001483.3:p.Gly173_Ala174insCys
NM_021267.5:c.*788_*789insTGC (CERS1) MANE Select	NP_067090.1:n.*788_*789insTGC
NM_001387438.1:c.519_520insTGC (GDF1)	NP_001374367.1:p.Gly173_Ala174insCys
NM_001387440.1:c.*1380_*1381insTGC (CERS1)	NP_001374369.1:n.*1380_*1381insTGC