Canonical Allele Identifier: CA545685437

Gene: ADCY5

Linked Data

• dbSNP Id: rs1941092496
• gnomAD v2: 3-123038214-ATG-A
• MyVariant Identifiers: chr3:g.123038215_123038216del (hg19) ; chr3:g.123319368_123319369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319368_123319369del , CM000665.2:g.123319368_123319369del	GRCh38
NC_000003.11:g.123038215_123038216del , CM000665.1:g.123038215_123038216del	GRCh37
NC_000003.10:g.124520905_124520906del	NCBI36
NG_033882.1:g.134177_134178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.933+305_933+306del	ENSP00000420082.2:n.933+305_933+306del
ENST00000470367.2:c.1221+305_1221+306del	ENSP00000514541.1:n.1221+305_1221+306del
ENST00000483566.2:c.933+305_933+306del	ENSP00000420252.2:n.933+305_933+306del
ENST00000699714.1:c.933+305_933+306del	ENSP00000514539.1:n.933+305_933+306del
ENST00000699715.1:c.933+305_933+306del	ENSP00000514540.1:n.933+305_933+306del
ENST00000699716.1:c.933+305_933+306del	ENSP00000514542.1:n.933+305_933+306del
ENST00000699718.1:c.2256+305_2256+306del	ENSP00000514543.1:n.2256+305_2256+306del
ENST00000699719.1:n.515+305_515+306del
ENST00000462833.6:c.2256+305_2256+306del MANE Select	ENSP00000419361.1:n.2256+305_2256+306del
ENST00000309879.9:c.1206+305_1206+306del	ENSP00000308685.5:n.1206+305_1206+306del
ENST00000462833.5:c.2256+305_2256+306del	ENSP00000419361.1:n.2256+305_2256+306del
ENST00000466617.5:c.933+305_933+306del	ENSP00000420082.1:n.933+305_933+306del
ENST00000491190.5:c.1155+305_1155+306del	ENSP00000418537.1:n.1155+305_1155+306del
NM_001199642.1:c.1206+305_1206+306del	NP_001186571.1:n.1206+305_1206+306del
NM_183357.2:c.2256+305_2256+306del	NP_899200.1:n.2256+305_2256+306del
XM_005247077.2:c.2256+305_2256+306del	XP_005247134.1:n.2256+305_2256+306del
XM_005247078.1:c.1206+305_1206+306del	XP_005247135.1:n.1206+305_1206+306del
XM_006713483.1:c.1155+305_1155+306del	XP_006713546.1:n.1155+305_1155+306del
XM_006713484.1:c.933+305_933+306del	XP_006713547.1:n.933+305_933+306del
XM_011512358.1:c.2256+305_2256+306del	XP_011510660.1:n.2256+305_2256+306del
XM_011512359.1:c.1257+305_1257+306del	XP_011510661.1:n.1257+305_1257+306del
XM_011512360.1:c.1167+305_1167+306del	XP_011510662.1:n.1167+305_1167+306del
XM_011512361.1:c.933+305_933+306del	XP_011510663.1:n.933+305_933+306del
XM_005247077.4:c.2256+305_2256+306del	XP_005247134.1:n.2256+305_2256+306del
XM_011512359.2:c.1257+305_1257+306del	XP_011510661.1:n.1257+305_1257+306del
XM_011512360.3:c.1167+305_1167+306del	XP_011510662.1:n.1167+305_1167+306del
XM_017005638.1:c.1158+305_1158+306del	XP_016861127.1:n.1158+305_1158+306del
XM_017005639.1:c.1158+305_1158+306del	XP_016861128.1:n.1158+305_1158+306del
NM_001378259.1:c.2256+305_2256+306del	NP_001365188.1:n.2256+305_2256+306del
NM_183357.3:c.2256+305_2256+306del MANE Select	NP_899200.1:n.2256+305_2256+306del