Canonical Allele Identifier: CA2583634698

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18868706-CAGCAGGGCAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868707_18868718del , CM000681.2:g.18868707_18868718del	GRCh38
NC_000019.9:g.18979516_18979527del , CM000681.1:g.18979516_18979527del	GRCh37
NC_000019.8:g.18840516_18840527del	NCBI36
NG_012070.1:g.32427_32438del
NG_033056.1:g.32427_32438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1267_*1278del (CERS1) MANE Select	ENSP00000485308.1:n.*1267_*1278del
ENST00000247005.8:c.998_1009del (GDF1) MANE Select	ENSP00000247005.5:p.Asp333_Cys337delinsGly
ENST00000247005.7:c.998_1009del (GDF1)	ENSP00000247005.5:p.Asp333_Cys337delinsGly
ENST00000623882.3:c.*1267_*1278del (CERS1)	ENSP00000485308.1:n.*1267_*1278del
ENST00000623927.1:c.998_1009del (CERS1)	ENSP00000485582.1:p.Asp333_Cys337delinsGly
NM_001492.5:c.998_1009del (GDF1)	NP_001483.3:p.Asp333_Cys337delinsGly
NM_021267.4:c.*1267_*1278del (CERS1)	NP_067090.1:n.*1267_*1278del
NM_001492.6:c.998_1009del (GDF1) MANE Select	NP_001483.3:p.Asp333_Cys337delinsGly
NM_021267.5:c.*1267_*1278del (CERS1) MANE Select	NP_067090.1:n.*1267_*1278del
NM_001387438.1:c.998_1009del (GDF1)	NP_001374367.1:p.Asp333_Cys337delinsGly
NM_001387440.1:c.*1859_*1870del (CERS1)	NP_001374369.1:n.*1859_*1870del