Canonical Allele Identifier: CA2576726654

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869372_18869391del , CM000681.2:g.18869372_18869391del	GRCh38
NC_000019.9:g.18980181_18980200del , CM000681.1:g.18980181_18980200del	GRCh37
NC_000019.8:g.18841181_18841200del	NCBI36
NG_012070.1:g.31756_31775del
NG_033056.1:g.31756_31775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*596_*615del (CERS1)
ENST00000247005.8:c.327_346del (GDF1)
ENST00000247005.7:c.327_346del (GDF1)
ENST00000623882.3:c.*596_*615del (CERS1)
ENST00000623927.1:c.327_346del (CERS1)
NM_001492.5:c.327_346del (GDF1)
NM_021267.4:c.*596_*615del (CERS1)
NM_001492.6:c.327_346del (GDF1)
NM_021267.5:c.*596_*615del (CERS1)
NM_001387438.1:c.327_346del (GDF1)
NM_001387440.1:c.*1188_*1207del (CERS1)	NP_001374369.1:n.*1188_*1207del