Canonical Allele Identifier: CA1133280052

Gene: ALAS2

Linked Data

• gnomAD v3: X-55020980-CTTT-C
• gnomAD v4: X-55020980-CTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020990_55020992del , CM000685.2:g.55020990_55020992del	GRCh38
NC_000023.10:g.55047423_55047425del , CM000685.1:g.55047423_55047425del	GRCh37
NC_000023.9:g.55064148_55064150del	NCBI36
NG_008983.1:g.15082_15084del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+69_422+71del	ENSP00000407204.2:n.422+69_422+71del
ENST00000477869.6:c.311+69_311+71del	ENSP00000496725.1:n.311+69_311+71del
ENST00000493869.2:c.305-479_305-477del	ENSP00000495713.1:n.305-479_305-477del
ENST00000650242.1:c.638+69_638+71del MANE Select	ENSP00000497236.1:n.638+69_638+71del
ENST00000330807.9:c.638+69_638+71del	ENSP00000332369.5:n.638+69_638+71del
ENST00000335854.8:c.527+69_527+71del	ENSP00000337131.4:n.527+69_527+71del
ENST00000396198.7:c.599+69_599+71del	ENSP00000379501.3:n.599+69_599+71del
ENST00000455688.1:c.493+69_493+71del
ENST00000463868.5:n.356-479_356-477del
ENST00000477869.5:n.382+69_382+71del
ENST00000493869.1:n.578+69_578+71del
NM_000032.4:c.638+69_638+71del	NP_000023.2:n.638+69_638+71del
NM_001037967.3:c.527+69_527+71del	NP_001033056.1:n.527+69_527+71del
NM_001037968.3:c.599+69_599+71del	NP_001033057.1:n.599+69_599+71del
XM_005261995.2:c.710+69_710+71del	XP_005262052.1:n.710+69_710+71del
XM_011530771.1:c.-223-479_-223-477del	XP_011529073.1:n.-223-479_-223-477del
NM_000032.5:c.638+69_638+71del MANE Select	NP_000023.2:n.638+69_638+71del
NM_001037967.4:c.527+69_527+71del	NP_001033056.1:n.527+69_527+71del
NM_001037968.4:c.599+69_599+71del	NP_001033057.1:n.599+69_599+71del