Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000008dup , CM000665.2:g.47000008dup	GRCh38
NC_000003.11:g.47041498dup , CM000665.1:g.47041498dup	GRCh37
NC_000003.10:g.47016502dup	NCBI36
NG_031914.1:g.25326dup , LRG_568:g.25326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3909dup MANE Select	ENSP00000415034.2:p.Pro1304SerfsTer20
ENST00000651747.1:c.3807dup	ENSP00000499216.1:p.Pro1270SerfsTer20
ENST00000652744.1:n.246dup
ENST00000416683.5:c.1960-188dup
ENST00000450053.7:c.3909dup	ENSP00000415034.2:p.Pro1304SerfsTer20
NM_015175.2:c.3909dup , LRG_568t1:c.3909dup	NP_055990.1:p.Pro1304SerfsTer20
XM_005264992.2:c.3807dup	XP_005265049.1:p.Pro1270SerfsTer20
XM_005264993.2:c.381dup	XP_005265050.1:p.Pro128SerfsTer20
XM_006713072.2:c.3828dup	XP_006713135.1:p.Pro1277SerfsTer20
XM_011533532.1:c.3888dup	XP_011531834.1:p.Pro1297SerfsTer20
XM_011533533.1:c.3909dup	XP_011531835.1:p.Pro1304SerfsTer20
XM_011533534.1:c.3540dup	XP_011531836.1:p.Pro1181SerfsTer20
XM_011533535.1:c.3369dup	XP_011531837.1:p.Pro1124SerfsTer20
XM_011533536.1:c.3255dup	XP_011531838.1:p.Pro1086SerfsTer20
XM_011533537.1:c.2817dup	XP_011531839.1:p.Pro940SerfsTer20
XR_940397.1:n.4085dup
XR_940398.1:n.4085dup
NM_001365116.1:c.3807dup	NP_001352045.1:p.Pro1270SerfsTer20
XM_006713072.3:c.3828dup	XP_006713135.1:p.Pro1277SerfsTer20
XM_011533533.2:c.3909dup	XP_011531835.1:p.Pro1304SerfsTer20
XM_017006010.1:c.3909dup	XP_016861499.1:p.Pro1304SerfsTer20
XM_017006011.1:c.3888dup	XP_016861500.1:p.Pro1297SerfsTer20
XM_017006012.1:c.3828dup	XP_016861501.1:p.Pro1277SerfsTer20
XM_017006013.1:c.3909dup	XP_016861502.1:p.Pro1304SerfsTer20
XM_017006014.1:c.3807dup	XP_016861503.1:p.Pro1270SerfsTer20
XM_017006015.1:c.3540dup	XP_016861504.1:p.Pro1181SerfsTer20
XM_017006016.1:c.3369dup	XP_016861505.1:p.Pro1124SerfsTer20
XM_017006017.1:c.381dup	XP_016861506.1:p.Pro128SerfsTer20
XR_940397.2:n.4085dup
NM_001365116.2:c.3807dup	NP_001352045.1:p.Pro1270SerfsTer20
NM_015175.3:c.3909dup MANE Select	NP_055990.1:p.Pro1304SerfsTer20