Canonical Allele Identifier: CA2740094581

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 3027001
• ClinVar RCV Id: RCV003887394

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284608_123284614del , CM000665.2:g.123284608_123284614del	GRCh38
NC_000003.11:g.123003455_123003461del , CM000665.1:g.123003455_123003461del	GRCh37
NC_000003.10:g.124486145_124486151del	NCBI36
NG_033882.1:g.168935_168941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2460_*3del	ENSP00000420082.2:n.[c.2460_*3del;Ter821CysextTer?]
ENST00000470367.2:c.2748_*3del	ENSP00000514541.1:n.[c.2748_*3del;Ter917CysextTer?]
ENST00000483566.2:c.2460_*3del	ENSP00000420252.2:n.[c.2460_*3del;Ter821CysextTer?]
ENST00000699714.1:c.2460_*3del	ENSP00000514539.1:n.[c.2460_*3del;Ter821CysextTer?]
ENST00000699715.1:c.2460_*3del	ENSP00000514540.1:n.[c.2460_*3del;Ter821CysextTer?]
ENST00000699716.1:c.2460_*3del	ENSP00000514542.1:n.[c.2460_*3del;Ter821CysextTer?]
ENST00000699717.1:n.2186_2192del
ENST00000699718.1:c.3858_3864del	ENSP00000514543.1:n.[c.3858_3864del;Ter1287CysextTer?]
ENST00000462833.6:c.3783_*3del MANE Select	ENSP00000419361.1:n.[c.3783_*3del;Ter1262CysextTer?]
ENST00000309879.9:c.2733_*3del	ENSP00000308685.5:n.[c.2733_*3del;Ter912CysextTer?]
ENST00000462833.5:c.3783_*3del	ENSP00000419361.1:n.[c.3783_*3del;Ter1262CysextTer?]
ENST00000478092.1:n.553_559del
ENST00000491190.5:c.2757_*3del	ENSP00000418537.1:n.[c.2757_*3del;Ter920CysextTer?]
NM_001199642.1:c.2733_*3del	NP_001186571.1:n.[c.2733_*3del;Ter912CysextTer?]
NM_183357.2:c.3783_3789del	NP_899200.1:n.[c.3783_3789del;Ter1262CysextTer?]
XM_005247077.2:c.3858_*3del	XP_005247134.1:n.[c.3858_*3del;Ter1287CysextTer?]
XM_005247078.1:c.2808_*3del	XP_005247135.1:n.[c.2808_*3del;Ter937CysextTer?]
XM_006713483.1:c.2757_*3del	XP_006713546.1:n.[c.2757_*3del;Ter920CysextTer?]
XM_006713484.1:c.2535_*3del	XP_006713547.1:n.[c.2535_*3del;Ter846CysextTer?]
XM_011512359.1:c.2859_*3del	XP_011510661.1:n.[c.2859_*3del;Ter954CysextTer?]
XM_011512360.1:c.2769_*3del	XP_011510662.1:n.[c.2769_*3del;Ter924CysextTer?]
XM_011512361.1:c.2535_*3del	XP_011510663.1:n.[c.2535_*3del;Ter846CysextTer?]
XM_005247077.4:c.3858_*3del	XP_005247134.1:n.[c.3858_*3del;Ter1287CysextTer?]
XM_011512359.2:c.2859_*3del	XP_011510661.1:n.[c.2859_*3del;Ter954CysextTer?]
XM_011512360.3:c.2769_*3del	XP_011510662.1:n.[c.2769_*3del;Ter924CysextTer?]
XM_017005638.1:c.2760_*3del	XP_016861127.1:n.[c.2760_*3del;Ter921CysextTer?]
XM_017005639.1:c.2760_*3del	XP_016861128.1:n.[c.2760_*3del;Ter921CysextTer?]
NM_001378259.1:c.3858_*3del	NP_001365188.1:n.[c.3858_*3del;Ter1287CysextTer?]
NM_183357.3:c.3783_*3del MANE Select	NP_899200.1:n.[c.3783_*3del;Ter1262CysextTer?]