Canonical Allele Identifier: CA2630296125

Gene: ANPEP

Linked Data

• gnomAD v4: 15-89792406-G-GAAGACTGGCAGAGGAAGATGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89792406_89792407insAAGACTGGCAGAGGAAGATGAA , CM000677.2:g.89792406_89792407insAAGACTGGCAGAGGAAGATGAA	GRCh38
NC_000015.9:g.90335637_90335638insAAGACTGGCAGAGGAAGATGAA , CM000677.1:g.90335637_90335638insAAGACTGGCAGAGGAAGATGAA	GRCh37
NC_000015.8:g.88136641_88136642insAAGACTGGCAGAGGAAGATGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300060.7:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT MANE Select	ENSP00000300060.6:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
ENST00000559874.2:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	ENSP00000452934.2:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
ENST00000560137.2:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	ENSP00000453413.2:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
ENST00000679248.1:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	ENSP00000502886.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
ENST00000300060.6:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	ENSP00000300060.6:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
ENST00000558740.1:n.264+45_264+46insTTCATCTTCCTCTGCCAGTCTT
NM_001150.2:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	NP_001141.2:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
XM_005254892.3:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	XP_005254949.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
XM_011521473.1:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	XP_011519775.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
XM_005254892.4:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	XP_005254949.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
NM_001150.3:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT MANE Select	NP_001141.2:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
NM_001381923.1:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	NP_001368852.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT
NM_001381924.1:c.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT	NP_001368853.1:n.2360+45_2360+46insTTCATCTTCCTCTGCCAGTCTT