Canonical Allele Identifier: CA2326567764

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869207_18869210delinsGCTT , CM000681.2:g.18869207_18869210delinsGCTT	GRCh38
NC_000019.9:g.18980016_18980019delinsGCTT , CM000681.1:g.18980016_18980019delinsGCTT	GRCh37
NC_000019.8:g.18841016_18841019delinsGCTT	NCBI36
NG_012070.1:g.31935_31938delinsAAGC
NG_033056.1:g.31935_31938delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*775_*778delinsAAGC (CERS1) MANE Select	ENSP00000485308.1:n.*775_*778delinsAAGC
ENST00000247005.8:c.506_509delinsAAGC (GDF1) MANE Select	ENSP00000247005.5:p.Gln169=
ENST00000247005.7:c.506_509delinsAAGC (GDF1)	ENSP00000247005.5:p.Gln169=
ENST00000623882.3:c.*775_*778delinsAAGC (CERS1)	ENSP00000485308.1:n.*775_*778delinsAAGC
ENST00000623927.1:c.506_509delinsAAGC (CERS1)	ENSP00000485582.1:p.Gln169=
NM_001492.5:c.506_509delinsAAGC (GDF1)	NP_001483.3:p.Gln169=
NM_021267.4:c.*775_*778delinsAAGC (CERS1)	NP_067090.1:n.*775_*778delinsAAGC
NM_001492.6:c.506_509delinsAAGC (GDF1) MANE Select	NP_001483.3:p.Gln169=
NM_021267.5:c.*775_*778delinsAAGC (CERS1) MANE Select	NP_067090.1:n.*775_*778delinsAAGC
NM_001387438.1:c.506_509delinsAAGC (GDF1)	NP_001374367.1:p.Gln169=
NM_001387440.1:c.*1367_*1370delinsAAGC (CERS1)	NP_001374369.1:n.*1367_*1370delinsAAGC