Canonical Allele Identifier: CA545690191

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1353753
• ClinVar RCV Id: RCV001887646
• dbSNP Id: rs1452076733
• gnomAD v2: 3-123003507-CCCTTGA-C
• gnomAD v3: 3-123284660-CCCTTGA-C
• gnomAD v4: 3-123284660-CCCTTGA-C
• MyVariant Identifiers: chr3:g.123003508_123003513del (hg19) ; chr3:g.123284661_123284666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284669_123284674del , CM000665.2:g.123284669_123284674del	GRCh38
NC_000003.11:g.123003516_123003521del , CM000665.1:g.123003516_123003521del	GRCh37
NC_000003.10:g.124486206_124486211del	NCBI36
NG_033882.1:g.168880_168885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2405_2410del	ENSP00000420082.2:p.Val802_Lys803del
ENST00000470367.2:c.2693_2698del	ENSP00000514541.1:p.Val898_Lys899del
ENST00000483566.2:c.2405_2410del	ENSP00000420252.2:p.Val802_Lys803del
ENST00000699714.1:c.2405_2410del	ENSP00000514539.1:p.Val802_Lys803del
ENST00000699715.1:c.2405_2410del	ENSP00000514540.1:p.Val802_Lys803del
ENST00000699716.1:c.2405_2410del	ENSP00000514542.1:p.Val802_Lys803del
ENST00000699717.1:n.2131_2136del
ENST00000699718.1:c.3803_3808del	ENSP00000514543.1:p.Val1268_Lys1269del
ENST00000462833.6:c.3728_3733del MANE Select	ENSP00000419361.1:p.Val1243_Lys1244del
ENST00000309879.9:c.2678_2683del	ENSP00000308685.5:p.Val893_Lys894del
ENST00000462833.5:c.3728_3733del	ENSP00000419361.1:p.Val1243_Lys1244del
ENST00000478092.1:n.498_503del
ENST00000491190.5:c.2702_2707del	ENSP00000418537.1:p.Val901_Lys902del
NM_001199642.1:c.2678_2683del	NP_001186571.1:p.Val893_Lys894del
NM_183357.2:c.3728_3733del	NP_899200.1:p.Val1243_Lys1244del
XM_005247077.2:c.3803_3808del	XP_005247134.1:p.Val1268_Lys1269del
XM_005247078.1:c.2753_2758del	XP_005247135.1:p.Val918_Lys919del
XM_006713483.1:c.2702_2707del	XP_006713546.1:p.Val901_Lys902del
XM_006713484.1:c.2480_2485del	XP_006713547.1:p.Val827_Lys828del
XM_011512359.1:c.2804_2809del	XP_011510661.1:p.Val935_Lys936del
XM_011512360.1:c.2714_2719del	XP_011510662.1:p.Val905_Lys906del
XM_011512361.1:c.2480_2485del	XP_011510663.1:p.Val827_Lys828del
XM_005247077.4:c.3803_3808del	XP_005247134.1:p.Val1268_Lys1269del
XM_011512359.2:c.2804_2809del	XP_011510661.1:p.Val935_Lys936del
XM_011512360.3:c.2714_2719del	XP_011510662.1:p.Val905_Lys906del
XM_017005638.1:c.2705_2710del	XP_016861127.1:p.Val902_Lys903del
XM_017005639.1:c.2705_2710del	XP_016861128.1:p.Val902_Lys903del
NM_001378259.1:c.3803_3808del	NP_001365188.1:p.Val1268_Lys1269del
NM_183357.3:c.3728_3733del MANE Select	NP_899200.1:p.Val1243_Lys1244del