Canonical Allele Identifier: CA2652503303

Gene: AHCY

Linked Data

• gnomAD v4: 20-34292301-GCAAACAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34292303_34292311del , CM000682.2:g.34292303_34292311del	GRCh38
NC_000020.10:g.32880109_32880117del , CM000682.1:g.32880109_32880117del	GRCh37
NC_000020.9:g.32343770_32343778del	NCBI36
NG_012630.1:g.24493_24501del
NG_012630.2:g.24493_24501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.445+48_445+56del MANE Select	ENSP00000217426.2:n.445+48_445+56del
ENST00000217426.6:c.445+48_445+56del	ENSP00000217426.2:n.445+48_445+56del
ENST00000468908.1:n.608+48_608+56del
ENST00000480653.5:n.492+48_492+56del
ENST00000538132.1:c.361+48_361+56del	ENSP00000442820.1:n.361+48_361+56del
NM_000687.2:c.445+48_445+56del	NP_000678.1:n.445+48_445+56del
NM_001161766.1:c.361+48_361+56del	NP_001155238.1:n.361+48_361+56del
XM_005260316.3:c.361+48_361+56del	XP_005260373.1:n.361+48_361+56del
XM_005260317.1:c.361+48_361+56del	XP_005260374.1:n.361+48_361+56del
XM_011528656.1:c.361+48_361+56del	XP_011526958.1:n.361+48_361+56del
XM_011528657.1:c.361+48_361+56del	XP_011526959.1:n.361+48_361+56del
XM_011528658.1:c.361+48_361+56del	XP_011526960.1:n.361+48_361+56del
XM_011528659.1:c.361+48_361+56del	XP_011526961.1:n.361+48_361+56del
XM_011528660.1:c.361+48_361+56del	XP_011526962.1:n.361+48_361+56del
NM_000687.3:c.445+48_445+56del	NP_000678.1:n.445+48_445+56del
NM_001322084.1:c.361+48_361+56del	NP_001309013.1:n.361+48_361+56del
NM_001322085.1:c.361+48_361+56del	NP_001309014.1:n.361+48_361+56del
NM_001322086.1:c.451+48_451+56del	NP_001309015.1:n.451+48_451+56del
NM_001362750.1:c.445+48_445+56del	NP_001349679.1:n.445+48_445+56del
XM_005260317.2:c.361+48_361+56del	XP_005260374.1:n.361+48_361+56del
XM_011528656.3:c.451+48_451+56del	XP_011526958.2:n.451+48_451+56del
XM_011528657.2:c.451+48_451+56del	XP_011526959.2:n.451+48_451+56del
XM_011528658.3:c.451+48_451+56del	XP_011526960.2:n.451+48_451+56del
XM_017027709.2:c.445+48_445+56del	XP_016883198.1:n.445+48_445+56del
XM_017027710.2:c.67+48_67+56del	XP_016883199.1:n.67+48_67+56del
NM_000687.4:c.445+48_445+56del MANE Select	NP_000678.1:n.445+48_445+56del
NM_001322084.2:c.361+48_361+56del	NP_001309013.1:n.361+48_361+56del
NM_001322085.2:c.361+48_361+56del	NP_001309014.1:n.361+48_361+56del
NM_001322086.2:c.451+48_451+56del	NP_001309015.1:n.451+48_451+56del
NM_001362750.2:c.445+48_445+56del	NP_001349679.1:n.445+48_445+56del
NM_001161766.2:c.361+48_361+56del	NP_001155238.1:n.361+48_361+56del