Canonical Allele Identifier: CA2577208

Gene: ADCY5

Linked Data

• dbSNP Id: rs760757399
• ExAC: 3:123038520 CCTT / C
• gnomAD v2: 3-123038520-CCTT-C
• gnomAD v4: 3-123319673-CCTT-C
• MyVariant Identifiers: chr3:g.123038521_123038523del (hg19) ; chr3:g.123319674_123319676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319679_123319681del , CM000665.2:g.123319679_123319681del	GRCh38
NC_000003.11:g.123038526_123038528del , CM000665.1:g.123038526_123038528del	GRCh37
NC_000003.10:g.124521216_124521218del	NCBI36
NG_033882.1:g.133870_133872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.931_933del	ENSP00000420082.2:p.Lys311del
ENST00000470367.2:c.1219_1221del	ENSP00000514541.1:p.Lys407del
ENST00000483566.2:c.931_933del	ENSP00000420252.2:p.Lys311del
ENST00000699714.1:c.931_933del	ENSP00000514539.1:p.Lys311del
ENST00000699715.1:c.931_933del	ENSP00000514540.1:p.Lys311del
ENST00000699716.1:c.931_933del	ENSP00000514542.1:p.Lys311del
ENST00000699718.1:c.2254_2256del	ENSP00000514543.1:p.Lys752del
ENST00000699719.1:n.513_515del
ENST00000462833.6:c.2254_2256del MANE Select	ENSP00000419361.1:p.Lys752del
ENST00000309879.9:c.1204_1206del	ENSP00000308685.5:p.Lys402del
ENST00000462833.5:c.2254_2256del	ENSP00000419361.1:p.Lys752del
ENST00000466617.5:c.931_933del	ENSP00000420082.1:p.Lys311del
ENST00000491190.5:c.1153_1155del	ENSP00000418537.1:p.Lys385del
NM_001199642.1:c.1204_1206del	NP_001186571.1:p.Lys402del
NM_183357.2:c.2254_2256del	NP_899200.1:p.Lys752del
XM_005247077.2:c.2254_2256del	XP_005247134.1:p.Lys752del
XM_005247078.1:c.1204_1206del	XP_005247135.1:p.Lys402del
XM_006713483.1:c.1153_1155del	XP_006713546.1:p.Lys385del
XM_006713484.1:c.931_933del	XP_006713547.1:p.Lys311del
XM_011512358.1:c.2254_2256del	XP_011510660.1:p.Lys752del
XM_011512359.1:c.1255_1257del	XP_011510661.1:p.Lys419del
XM_011512360.1:c.1165_1167del	XP_011510662.1:p.Lys389del
XM_011512361.1:c.931_933del	XP_011510663.1:p.Lys311del
XM_005247077.4:c.2254_2256del	XP_005247134.1:p.Lys752del
XM_011512359.2:c.1255_1257del	XP_011510661.1:p.Lys419del
XM_011512360.3:c.1165_1167del	XP_011510662.1:p.Lys389del
XM_017005638.1:c.1156_1158del	XP_016861127.1:p.Lys386del
XM_017005639.1:c.1156_1158del	XP_016861128.1:p.Lys386del
NM_001378259.1:c.2254_2256del	NP_001365188.1:p.Lys752del
NM_183357.3:c.2254_2256del MANE Select	NP_899200.1:p.Lys752del