Canonical Allele Identifier: CA1133280067

Gene: ALAS2

Linked Data

• gnomAD v3: X-55020998-TGTGG-T
• gnomAD v4: X-55020998-TGTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020999_55021002del , CM000685.2:g.55020999_55021002del	GRCh38
NC_000023.10:g.55047432_55047435del , CM000685.1:g.55047432_55047435del	GRCh37
NC_000023.9:g.55064157_55064160del	NCBI36
NG_008983.1:g.15063_15066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.422+50_422+53del	ENSP00000407204.2:n.422+50_422+53del
ENST00000477869.6:c.311+50_311+53del	ENSP00000496725.1:n.311+50_311+53del
ENST00000493869.2:c.305-498_305-495del	ENSP00000495713.1:n.305-498_305-495del
ENST00000650242.1:c.638+50_638+53del MANE Select	ENSP00000497236.1:n.638+50_638+53del
ENST00000330807.9:c.638+50_638+53del	ENSP00000332369.5:n.638+50_638+53del
ENST00000335854.8:c.527+50_527+53del	ENSP00000337131.4:n.527+50_527+53del
ENST00000396198.7:c.599+50_599+53del	ENSP00000379501.3:n.599+50_599+53del
ENST00000455688.1:c.493+50_493+53del
ENST00000463868.5:n.356-498_356-495del
ENST00000477869.5:n.382+50_382+53del
ENST00000493869.1:n.578+50_578+53del
NM_000032.4:c.638+50_638+53del	NP_000023.2:n.638+50_638+53del
NM_001037967.3:c.527+50_527+53del	NP_001033056.1:n.527+50_527+53del
NM_001037968.3:c.599+50_599+53del	NP_001033057.1:n.599+50_599+53del
XM_005261995.2:c.710+50_710+53del	XP_005262052.1:n.710+50_710+53del
XM_011530771.1:c.-223-498_-223-495del	XP_011529073.1:n.-223-498_-223-495del
NM_000032.5:c.638+50_638+53del MANE Select	NP_000023.2:n.638+50_638+53del
NM_001037967.4:c.527+50_527+53del	NP_001033056.1:n.527+50_527+53del
NM_001037968.4:c.599+50_599+53del	NP_001033057.1:n.599+50_599+53del