Canonical Allele Identifier: CA2843565267
Gene: ANKK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113399352dup , CM000673.2:g.113399352dup GRCh38
NC_000011.9:g.113270074dup , CM000673.1:g.113270074dup GRCh37
NC_000011.8:g.112775284dup NCBI36
NG_012976.1:g.16562dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.1383dup MANE Select ENSP00000306678.3:p.Trp462ValfsTer11
ENST00000303941.3:c.1383dup ENSP00000306678.3:p.Trp462ValfsTer11
NM_178510.1:c.1383dup NP_848605.1:p.Trp462ValfsTer11
XM_011542736.1:c.1416dup XP_011541038.1:p.Trp473ValfsTer11
XM_011542737.1:c.1386dup XP_011541039.1:p.Trp463ValfsTer11
XM_011542738.1:c.1194dup XP_011541040.1:p.Trp399ValfsTer11
XM_011542736.2:c.1416dup XP_011541038.1:p.Trp473ValfsTer11
XM_011542737.2:c.1386dup XP_011541039.1:p.Trp463ValfsTer11
XM_011542738.2:c.1194dup XP_011541040.1:p.Trp399ValfsTer11
XM_017017475.1:c.1413dup XP_016872964.1:p.Trp472ValfsTer11
NM_178510.2:c.1383dup MANE Select NP_848605.1:p.Trp462ValfsTer11