Canonical Allele Identifier: CA2598309513

Gene: ACYP2 TSPYL6

Linked Data

• gnomAD v3: 2-54254695-G-GAGCATGTGATGTTAATGCAGAATAGC
• gnomAD v4: 2-54254695-G-GAGCATGTGATGTTAATGCAGAATAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54254697_54254722dup , CM000664.2:g.54254697_54254722dup	GRCh38
NC_000002.11:g.54481834_54481859dup , CM000664.1:g.54481834_54481859dup	GRCh37
NC_000002.10:g.54335338_54335363dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394666.9:c.186-49991_186-49966dup (ACYP2) MANE Select	ENSP00000378161.3:n.186-49991_186-49966dup
ENST00000394666.8:c.186-49991_186-49966dup (ACYP2)	ENSP00000378161.3:n.186-49991_186-49966dup
ENST00000317802.9:c.*198_*223dup (TSPYL6) MANE Select	ENSP00000417919.2:n.*198_*223dup
ENST00000607452.6:c.405-49991_405-49966dup (ACYP2)	ENSP00000475986.1:n.405-49991_405-49966dup
ENST00000303536.8:c.270-12599_270-12574dup (ACYP2)	ENSP00000306448.4:n.270-12599_270-12574dup
ENST00000317802.8:c.*198_*223dup (TSPYL6)	ENSP00000417919.2:n.*198_*223dup
ENST00000394666.7:c.186-49991_186-49966dup (ACYP2)	ENSP00000378161.3:n.186-49991_186-49966dup
ENST00000494922.6:c.265+31614_265+31639dup (ACYP2)
ENST00000606865.1:c.138-49991_138-49966dup (ACYP2)	ENSP00000475333.1:n.138-49991_138-49966dup
ENST00000607452.5:c.405-49991_405-49966dup (ACYP2)	ENSP00000475986.1:n.405-49991_405-49966dup
NM_001003937.2:c.*198_*223dup (TSPYL6)	NP_001003937.2:n.*198_*223dup
NM_138448.3:c.186-49991_186-49966dup (ACYP2)	NP_612457.1:n.186-49991_186-49966dup
NM_001320586.1:c.405-49991_405-49966dup (ACYP2)	NP_001307515.1:n.405-49991_405-49966dup
NM_001320587.1:c.312-49991_312-49966dup (ACYP2)	NP_001307516.1:n.312-49991_312-49966dup
NM_001320588.1:c.114-49991_114-49966dup (ACYP2)	NP_001307517.1:n.114-49991_114-49966dup
NM_001320589.1:c.186-12599_186-12574dup (ACYP2)	NP_001307518.1:n.186-12599_186-12574dup
XM_017005411.1:c.486-49991_486-49966dup (ACYP2)	XP_016860900.1:n.486-49991_486-49966dup
XM_017005412.1:c.486-12599_486-12574dup (ACYP2)	XP_016860901.1:n.486-12599_486-12574dup
XM_017005413.1:c.*23-49991_*23-49966dup (ACYP2)	XP_016860902.1:n.*23-49991_*23-49966dup
XR_001739083.1:n.1092+31614_1092+31639dup (ACYP2)
NM_001003937.3:c.*198_*223dup (TSPYL6) MANE Select	NP_001003937.2:n.*198_*223dup
NM_001320586.2:c.405-49991_405-49966dup (ACYP2)	NP_001307515.1:n.405-49991_405-49966dup
NM_001320587.2:c.312-49991_312-49966dup (ACYP2)	NP_001307516.1:n.312-49991_312-49966dup
NM_001320588.2:c.114-49991_114-49966dup (ACYP2)	NP_001307517.1:n.114-49991_114-49966dup
NM_001320589.2:c.186-12599_186-12574dup (ACYP2)	NP_001307518.1:n.186-12599_186-12574dup
NM_138448.4:c.186-49991_186-49966dup (ACYP2) MANE Select	NP_612457.1:n.186-49991_186-49966dup