Canonical Allele Identifier: CA2693865547

Gene: ALAS2

Linked Data

• gnomAD v4: X-55020991-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020992_55020993del , CM000685.2:g.55020992_55020993del	GRCh38
NC_000023.10:g.55047425_55047426del , CM000685.1:g.55047425_55047426del	GRCh37
NC_000023.9:g.55064150_55064151del	NCBI36
NG_008983.1:g.15072_15073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+59_422+60del	ENSP00000407204.2:n.422+59_422+60del
ENST00000477869.6:c.311+59_311+60del	ENSP00000496725.1:n.311+59_311+60del
ENST00000493869.2:c.305-489_305-488del	ENSP00000495713.1:n.305-489_305-488del
ENST00000650242.1:c.638+59_638+60del MANE Select	ENSP00000497236.1:n.638+59_638+60del
ENST00000330807.9:c.638+59_638+60del	ENSP00000332369.5:n.638+59_638+60del
ENST00000335854.8:c.527+59_527+60del	ENSP00000337131.4:n.527+59_527+60del
ENST00000396198.7:c.599+59_599+60del	ENSP00000379501.3:n.599+59_599+60del
ENST00000455688.1:c.493+59_493+60del
ENST00000463868.5:n.356-489_356-488del
ENST00000477869.5:n.382+59_382+60del
ENST00000493869.1:n.578+59_578+60del
NM_000032.4:c.638+59_638+60del	NP_000023.2:n.638+59_638+60del
NM_001037967.3:c.527+59_527+60del	NP_001033056.1:n.527+59_527+60del
NM_001037968.3:c.599+59_599+60del	NP_001033057.1:n.599+59_599+60del
XM_005261995.2:c.710+59_710+60del	XP_005262052.1:n.710+59_710+60del
XM_011530771.1:c.-223-489_-223-488del	XP_011529073.1:n.-223-489_-223-488del
NM_000032.5:c.638+59_638+60del MANE Select	NP_000023.2:n.638+59_638+60del
NM_001037967.4:c.527+59_527+60del	NP_001033056.1:n.527+59_527+60del
NM_001037968.4:c.599+59_599+60del	NP_001033057.1:n.599+59_599+60del