Canonical Allele Identifier: CA2576707

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1649686
• ClinVar RCV Id: RCV002144301
• dbSNP Id: rs771309702
• ExAC: 3:123003595 CAGG / C
• gnomAD v2: 3-123003595-CAGG-C
• gnomAD v3: 3-123284748-CAGG-C
• gnomAD v4: 3-123284748-CAGG-C
• MyVariant Identifiers: chr3:g.123003596_123003598del (hg19) ; chr3:g.123284750_123284752del (hg38) ; chr3:g.123284749_123284751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284754_123284756del , CM000665.2:g.123284754_123284756del	GRCh38
NC_000003.11:g.123003601_123003603del , CM000665.1:g.123003601_123003603del	GRCh37
NC_000003.10:g.124486291_124486293del	NCBI36
NG_033882.1:g.168795_168797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2335-15_2335-13del	ENSP00000420082.2:n.2335-15_2335-13del
ENST00000470367.2:c.2623-15_2623-13del	ENSP00000514541.1:n.2623-15_2623-13del
ENST00000483566.2:c.2335-15_2335-13del	ENSP00000420252.2:n.2335-15_2335-13del
ENST00000699714.1:c.2335-15_2335-13del	ENSP00000514539.1:n.2335-15_2335-13del
ENST00000699715.1:c.2335-15_2335-13del	ENSP00000514540.1:n.2335-15_2335-13del
ENST00000699716.1:c.2335-15_2335-13del	ENSP00000514542.1:n.2335-15_2335-13del
ENST00000699717.1:n.2061-15_2061-13del
ENST00000699718.1:c.3733-15_3733-13del	ENSP00000514543.1:n.3733-15_3733-13del
ENST00000462833.6:c.3658-15_3658-13del MANE Select	ENSP00000419361.1:n.3658-15_3658-13del
ENST00000309879.9:c.2608-15_2608-13del	ENSP00000308685.5:n.2608-15_2608-13del
ENST00000462833.5:c.3658-15_3658-13del	ENSP00000419361.1:n.3658-15_3658-13del
ENST00000478092.1:n.428-15_428-13del
ENST00000491190.5:c.2632-15_2632-13del	ENSP00000418537.1:n.2632-15_2632-13del
NM_001199642.1:c.2608-15_2608-13del	NP_001186571.1:n.2608-15_2608-13del
NM_183357.2:c.3658-15_3658-13del	NP_899200.1:n.3658-15_3658-13del
XM_005247077.2:c.3733-15_3733-13del	XP_005247134.1:n.3733-15_3733-13del
XM_005247078.1:c.2683-15_2683-13del	XP_005247135.1:n.2683-15_2683-13del
XM_006713483.1:c.2632-15_2632-13del	XP_006713546.1:n.2632-15_2632-13del
XM_006713484.1:c.2410-15_2410-13del	XP_006713547.1:n.2410-15_2410-13del
XM_011512359.1:c.2734-15_2734-13del	XP_011510661.1:n.2734-15_2734-13del
XM_011512360.1:c.2644-15_2644-13del	XP_011510662.1:n.2644-15_2644-13del
XM_011512361.1:c.2410-15_2410-13del	XP_011510663.1:n.2410-15_2410-13del
XM_005247077.4:c.3733-15_3733-13del	XP_005247134.1:n.3733-15_3733-13del
XM_011512359.2:c.2734-15_2734-13del	XP_011510661.1:n.2734-15_2734-13del
XM_011512360.3:c.2644-15_2644-13del	XP_011510662.1:n.2644-15_2644-13del
XM_017005638.1:c.2635-15_2635-13del	XP_016861127.1:n.2635-15_2635-13del
XM_017005639.1:c.2635-15_2635-13del	XP_016861128.1:n.2635-15_2635-13del
NM_001378259.1:c.3733-15_3733-13del	NP_001365188.1:n.3733-15_3733-13del
NM_183357.3:c.3658-15_3658-13del MANE Select	NP_899200.1:n.3658-15_3658-13del