Canonical Allele Identifier: CA182369867
Community Standard Title: NM_003114.5(SPAG1):c.940-114dup
Gene: SPAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.100193998dup , CM000670.2:g.100193998dup GRCh38
NC_000008.10:g.101206226dup , CM000670.1:g.101206226dup GRCh37
NC_000008.9:g.101275402dup NCBI36
NG_033834.1:g.40964dup
NG_033834.2:g.40964dup

Transcript Alleles

HGVS Amino-acid Change
NM_003114.5:c.940-114dup MANE Select NP_003105.2:n.940-114dup
ENST00000388798.7:c.940-114dup MANE Select ENSP00000373450.3:n.940-114dup
NM_001374321.1:c.940-114dup NP_001361250.1:n.940-114dup
NM_003114.4:c.940-114dup NP_003105.2:n.940-114dup
NM_172218.2:c.940-114dup NP_757367.1:n.940-114dup
NM_172218.3:c.940-114dup NP_757367.1:n.940-114dup
ENST00000251809.4:c.940-114dup ENSP00000251809.3:n.940-114dup
ENST00000388798.6:c.940-114dup ENSP00000373450.2:n.940-114dup
ENST00000520508.5:c.940-114dup ENSP00000428070.1:n.940-114dup
ENST00000520643.5:c.940-114dup ENSP00000427716.1:n.940-114dup
XM_011517240.1:c.940-114dup XP_011515542.1:n.940-114dup
XM_011517240.2:c.940-114dup XP_011515542.1:n.940-114dup
XM_011517241.1:c.940-114dup XP_011515543.1:n.940-114dup
XM_011517241.2:c.940-114dup XP_011515543.1:n.940-114dup
XM_011517242.1:c.940-114dup XP_011515544.1:n.940-114dup
XM_011517242.2:c.940-114dup XP_011515544.1:n.940-114dup
XM_011517243.1:c.940-114dup XP_011515545.1:n.940-114dup
XM_011517243.2:c.940-114dup XP_011515545.1:n.940-114dup
XM_011517244.1:c.940-114dup XP_011515546.1:n.940-114dup
XM_011517245.1:c.940-114dup XP_011515547.1:n.940-114dup
XM_011517245.2:c.940-114dup XP_011515547.1:n.940-114dup
XM_017013754.1:c.1045-114dup XP_016869243.1:n.1045-114dup
XM_017013755.1:c.604-114dup XP_016869244.1:n.604-114dup
XR_001745580.1:n.1026-114dup
XR_001745581.1:n.1026-114dup
XR_001745582.1:n.1026-114dup
XR_001745583.1:n.1026-114dup