Canonical Allele Identifier: CA1017103511

Gene: ASIP AHCY

Linked Data

• dbSNP Id: rs2035834194
• gnomAD v3: 20-34268782-AGAC-A
• gnomAD v4: 20-34268782-AGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34268786_34268788del , CM000682.2:g.34268786_34268788del	GRCh38
NC_000020.10:g.32856592_32856594del , CM000682.1:g.32856592_32856594del	GRCh37
NC_000020.9:g.32320253_32320255del	NCBI36
NG_011439.1:g.13422_13424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.223-205_223-203del (ASIP) MANE Select	ENSP00000364092.3:n.223-205_223-203del
ENST00000374954.3:c.223-205_223-203del (ASIP)	ENSP00000364092.3:n.223-205_223-203del
ENST00000568305.5:c.223-205_223-203del (ASIP)	ENSP00000454804.1:n.223-205_223-203del
NM_001672.2:c.223-205_223-203del (ASIP)	NP_001663.2:n.223-205_223-203del
XM_005260412.2:c.235-205_235-203del (ASIP)	XP_005260469.1:n.235-205_235-203del
XM_011528657.1:c.*7+12242_*7+12244del (AHCY)	XP_011526959.1:n.*7+12242_*7+12244del
XM_011528820.1:c.223-205_223-203del (ASIP)	XP_011527122.1:n.223-205_223-203del
XM_011528821.1:c.223-205_223-203del (ASIP)	XP_011527123.1:n.223-205_223-203del
XM_011528822.1:c.223-205_223-203del (ASIP)	XP_011527124.1:n.223-205_223-203del
XM_011528823.1:c.223-205_223-203del (ASIP)	XP_011527125.1:n.223-205_223-203del
XM_005260412.3:c.235-205_235-203del (ASIP)	XP_005260469.1:n.235-205_235-203del
XM_011528657.2:c.*7+12242_*7+12244del (AHCY)	XP_011526959.2:n.*7+12242_*7+12244del
XM_011528820.2:c.223-205_223-203del (ASIP)	XP_011527122.1:n.223-205_223-203del
NM_001385218.1:c.223-205_223-203del (ASIP)	NP_001372147.1:n.223-205_223-203del
NM_001672.3:c.223-205_223-203del (ASIP) MANE Select	NP_001663.2:n.223-205_223-203del