Canonical Allele Identifier: CA2959007849

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869247_18869248insAGC , CM000681.2:g.18869247_18869248insAGC	GRCh38
NC_000019.9:g.18980056_18980057insAGC , CM000681.1:g.18980056_18980057insAGC	GRCh37
NC_000019.8:g.18841056_18841057insAGC	NCBI36
NG_012070.1:g.31899_31900insTGC
NG_033056.1:g.31899_31900insTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*739_*740insTGC (CERS1) MANE Select	ENSP00000485308.1:n.*739_*740insTGC
ENST00000247005.8:c.470_471insTGC (GDF1) MANE Select	ENSP00000247005.5:p.Ala157_Ala158insAla
ENST00000247005.7:c.470_471insTGC (GDF1)	ENSP00000247005.5:p.Ala157_Ala158insAla
ENST00000623882.3:c.*739_*740insTGC (CERS1)	ENSP00000485308.1:n.*739_*740insTGC
ENST00000623927.1:c.470_471insTGC (CERS1)	ENSP00000485582.1:p.Ala157_Ala158insAla
NM_001492.5:c.470_471insTGC (GDF1)	NP_001483.3:p.Ala157_Ala158insAla
NM_021267.4:c.*739_*740insTGC (CERS1)	NP_067090.1:n.*739_*740insTGC
NM_001492.6:c.470_471insTGC (GDF1) MANE Select	NP_001483.3:p.Ala157_Ala158insAla
NM_021267.5:c.*739_*740insTGC (CERS1) MANE Select	NP_067090.1:n.*739_*740insTGC
NM_001387438.1:c.470_471insTGC (GDF1)	NP_001374367.1:p.Ala157_Ala158insAla
NM_001387440.1:c.*1331_*1332insTGC (CERS1)	NP_001374369.1:n.*1331_*1332insTGC