Canonical Allele Identifier: CA2667292117

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123284677-G-GCAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284678_123284679insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC , CM000665.2:g.123284678_123284679insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC	GRCh38
NC_000003.11:g.123003525_123003526insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC , CM000665.1:g.123003525_123003526insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC	GRCh37
NC_000003.10:g.124486215_124486216insAGCCCTGCGGGCTGGAGCATGGCTTCCCCGCCACC	NCBI36
NG_033882.1:g.168868_168869insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000420082.2:p.Val799TrpfsTer22
ENST00000470367.2:c.2681_2682insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000514541.1:p.Val895TrpfsTer22
ENST00000483566.2:c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000420252.2:p.Val799TrpfsTer22
ENST00000699714.1:c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000514539.1:p.Val799TrpfsTer22
ENST00000699715.1:c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000514540.1:p.Val799TrpfsTer22
ENST00000699716.1:c.2393_2394insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000514542.1:p.Val799TrpfsTer22
ENST00000699717.1:n.2119_2120insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
ENST00000699718.1:c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000514543.1:p.Val1265TrpfsTer22
ENST00000462833.6:c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG MANE Select	ENSP00000419361.1:p.Val1240TrpfsTer22
ENST00000309879.9:c.2666_2667insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000308685.5:p.Val890TrpfsTer22
ENST00000462833.5:c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000419361.1:p.Val1240TrpfsTer22
ENST00000478092.1:n.486_487insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG
ENST00000491190.5:c.2690_2691insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	ENSP00000418537.1:p.Val898TrpfsTer22
NM_001199642.1:c.2666_2667insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	NP_001186571.1:p.Val890TrpfsTer22
NM_183357.2:c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	NP_899200.1:p.Val1240TrpfsTer22
XM_005247077.2:c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_005247134.1:p.Val1265TrpfsTer22
XM_005247078.1:c.2741_2742insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_005247135.1:p.Val915TrpfsTer22
XM_006713483.1:c.2690_2691insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_006713546.1:p.Val898TrpfsTer22
XM_006713484.1:c.2468_2469insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_006713547.1:p.Val824TrpfsTer22
XM_011512359.1:c.2792_2793insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_011510661.1:p.Val932TrpfsTer22
XM_011512360.1:c.2702_2703insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_011510662.1:p.Val902TrpfsTer22
XM_011512361.1:c.2468_2469insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_011510663.1:p.Val824TrpfsTer22
XM_005247077.4:c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_005247134.1:p.Val1265TrpfsTer22
XM_011512359.2:c.2792_2793insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_011510661.1:p.Val932TrpfsTer22
XM_011512360.3:c.2702_2703insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_011510662.1:p.Val902TrpfsTer22
XM_017005638.1:c.2693_2694insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_016861127.1:p.Val899TrpfsTer22
XM_017005639.1:c.2693_2694insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	XP_016861128.1:p.Val899TrpfsTer22
NM_001378259.1:c.3791_3792insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG	NP_001365188.1:p.Val1265TrpfsTer22
NM_183357.3:c.3716_3717insGTGGCGGGGAAGCCATGCTCCAGCCCGCAGGGCTG MANE Select	NP_899200.1:p.Val1240TrpfsTer22