Canonical Allele Identifier: CA2573136408

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1513947
• ClinVar RCV Id: RCV002026429
• dbSNP Id: rs2108147887

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284610_123284613del , CM000665.2:g.123284610_123284613del	GRCh38
NC_000003.11:g.123003457_123003460del , CM000665.1:g.123003457_123003460del	GRCh37
NC_000003.10:g.124486147_124486150del	NCBI36
NG_033882.1:g.168935_168938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2460_2463del	ENSP00000420082.2:p.Ter821SerextTer?
ENST00000470367.2:c.2748_2751del	ENSP00000514541.1:p.Ter917SerextTer?
ENST00000483566.2:c.2460_2463del	ENSP00000420252.2:p.Ter821SerextTer?
ENST00000699714.1:c.2460_2463del	ENSP00000514539.1:p.Ter821SerextTer?
ENST00000699715.1:c.2460_2463del	ENSP00000514540.1:p.Ter821SerextTer?
ENST00000699716.1:c.2460_2463del	ENSP00000514542.1:p.Ter821SerextTer?
ENST00000699717.1:n.2186_2189del
ENST00000699718.1:c.3858_3861del	ENSP00000514543.1:p.Ter1287SerextTer?
ENST00000462833.6:c.3783_3786del MANE Select	ENSP00000419361.1:p.Ter1262SerextTer?
ENST00000309879.9:c.2733_2736del	ENSP00000308685.5:p.Ter912SerextTer?
ENST00000462833.5:c.3783_3786del	ENSP00000419361.1:p.Ter1262SerextTer?
ENST00000478092.1:n.553_556del
ENST00000491190.5:c.2757_2760del	ENSP00000418537.1:p.Ter920SerextTer?
NM_001199642.1:c.2733_2736del	NP_001186571.1:p.Ter912SerextTer?
NM_183357.2:c.3783_3786del	NP_899200.1:p.Ter1262SerextTer?
XM_005247077.2:c.3858_3861del	XP_005247134.1:p.Ter1287SerextTer?
XM_005247078.1:c.2808_2811del	XP_005247135.1:p.Ter937SerextTer?
XM_006713483.1:c.2757_2760del	XP_006713546.1:p.Ter920SerextTer?
XM_006713484.1:c.2535_2538del	XP_006713547.1:p.Ter846SerextTer?
XM_011512359.1:c.2859_2862del	XP_011510661.1:p.Ter954SerextTer?
XM_011512360.1:c.2769_2772del	XP_011510662.1:p.Ter924SerextTer?
XM_011512361.1:c.2535_2538del	XP_011510663.1:p.Ter846SerextTer?
XM_005247077.4:c.3858_3861del	XP_005247134.1:p.Ter1287SerextTer?
XM_011512359.2:c.2859_2862del	XP_011510661.1:p.Ter954SerextTer?
XM_011512360.3:c.2769_2772del	XP_011510662.1:p.Ter924SerextTer?
XM_017005638.1:c.2760_2763del	XP_016861127.1:p.Ter921SerextTer?
XM_017005639.1:c.2760_2763del	XP_016861128.1:p.Ter921SerextTer?
NM_001378259.1:c.3858_3861del	NP_001365188.1:p.Ter1287SerextTer?
NM_183357.3:c.3783_3786del MANE Select	NP_899200.1:p.Ter1262SerextTer?