Canonical Allele Identifier: CA2659052130

Gene: ACYP2 TSPYL6

Linked Data

• gnomAD v4: 2-54254608-G-GACTCTGGAAGGCTGTGGTCTGAAAACCAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54254608_54254609insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT , CM000664.2:g.54254608_54254609insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT	GRCh38
NC_000002.11:g.54481745_54481746insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT , CM000664.1:g.54481745_54481746insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT	GRCh37
NC_000002.10:g.54335249_54335250insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394666.9:c.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2) MANE Select	ENSP00000378161.3:n.186-50080_186-50079insACTCTGGAAGGCTGTGGTC...
ENST00000394666.8:c.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000378161.3:n.186-50080_186-50079insACTCTGGAAGGCTGTGGTC...
ENST00000317802.9:c.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT (TSPYL6) MANE Select	ENSP00000417919.2:n.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGA...
ENST00000607452.6:c.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000475986.1:n.405-50080_405-50079insACTCTGGAAGGCTGTGGTC...
ENST00000303536.8:c.270-12688_270-12687insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000306448.4:n.270-12688_270-12687insACTCTGGAAGGCTGTGGTC...
ENST00000317802.8:c.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT (TSPYL6)	ENSP00000417919.2:n.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGA...
ENST00000394666.7:c.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000378161.3:n.186-50080_186-50079insACTCTGGAAGGCTGTGGTC...
ENST00000494922.6:c.265+31525_265+31526insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)
ENST00000606865.1:c.138-50080_138-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000475333.1:n.138-50080_138-50079insACTCTGGAAGGCTGTGGTC...
ENST00000607452.5:c.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	ENSP00000475986.1:n.405-50080_405-50079insACTCTGGAAGGCTGTGGTC...
NM_001003937.2:c.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT (TSPYL6)	NP_001003937.2:n.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT
NM_138448.3:c.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_612457.1:n.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAA...
NM_001320586.1:c.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307515.1:n.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320587.1:c.312-50080_312-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307516.1:n.312-50080_312-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320588.1:c.114-50080_114-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307517.1:n.114-50080_114-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320589.1:c.186-12688_186-12687insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307518.1:n.186-12688_186-12687insACTCTGGAAGGCTGTGGTCTGA...
XM_017005411.1:c.486-50080_486-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	XP_016860900.1:n.486-50080_486-50079insACTCTGGAAGGCTGTGGTCTGA...
XM_017005412.1:c.486-12688_486-12687insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	XP_016860901.1:n.486-12688_486-12687insACTCTGGAAGGCTGTGGTCTGA...
XM_017005413.1:c.*23-50080_*23-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	XP_016860902.1:n.*23-50080_*23-50079insACTCTGGAAGGCTGTGGTCTGA...
XR_001739083.1:n.1092+31525_1092+31526insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)
NM_001003937.3:c.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT (TSPYL6) MANE Select	NP_001003937.2:n.*310_*311insACCTGGTTTTCAGACCACAGCCTTCCAGAGT
NM_001320586.2:c.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307515.1:n.405-50080_405-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320587.2:c.312-50080_312-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307516.1:n.312-50080_312-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320588.2:c.114-50080_114-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307517.1:n.114-50080_114-50079insACTCTGGAAGGCTGTGGTCTGA...
NM_001320589.2:c.186-12688_186-12687insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2)	NP_001307518.1:n.186-12688_186-12687insACTCTGGAAGGCTGTGGTCTGA...
NM_138448.4:c.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAACCAGGT (ACYP2) MANE Select	NP_612457.1:n.186-50080_186-50079insACTCTGGAAGGCTGTGGTCTGAAAA...