Canonical Allele Identifier: CA844564905

Gene: SPAG1

Linked Data

• dbSNP Id: rs1303998946
• gnomAD v3: 8-100191158-T-TGCCAGAGG
• gnomAD v4: 8-100191158-T-TGCCAGAGG
• MyVariant Identifiers: chr8:g.101203386_101203387insGCCAGAGG (hg19) ; chr8:g.100191158_100191159insGCCAGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100191168_100191175dup , CM000670.2:g.100191168_100191175dup	GRCh38
NC_000008.10:g.101203396_101203403dup , CM000670.1:g.101203396_101203403dup	GRCh37
NC_000008.9:g.101272572_101272579dup	NCBI36
NG_033834.1:g.38134_38141dup
NG_033834.2:g.38134_38141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.833-222_833-215dup MANE Select	ENSP00000373450.3:n.833-222_833-215dup
ENST00000251809.4:c.833-222_833-215dup	ENSP00000251809.3:n.833-222_833-215dup
ENST00000388798.6:c.833-222_833-215dup	ENSP00000373450.2:n.833-222_833-215dup
ENST00000520508.5:c.833-222_833-215dup	ENSP00000428070.1:n.833-222_833-215dup
ENST00000520643.5:c.833-222_833-215dup	ENSP00000427716.1:n.833-222_833-215dup
NM_003114.4:c.833-222_833-215dup	NP_003105.2:n.833-222_833-215dup
NM_172218.2:c.833-222_833-215dup	NP_757367.1:n.833-222_833-215dup
XM_011517240.1:c.833-222_833-215dup	XP_011515542.1:n.833-222_833-215dup
XM_011517241.1:c.833-222_833-215dup	XP_011515543.1:n.833-222_833-215dup
XM_011517242.1:c.833-222_833-215dup	XP_011515544.1:n.833-222_833-215dup
XM_011517243.1:c.833-222_833-215dup	XP_011515545.1:n.833-222_833-215dup
XM_011517244.1:c.833-222_833-215dup	XP_011515546.1:n.833-222_833-215dup
XM_011517245.1:c.833-222_833-215dup	XP_011515547.1:n.833-222_833-215dup
XM_011517240.2:c.833-222_833-215dup	XP_011515542.1:n.833-222_833-215dup
XM_011517241.2:c.833-222_833-215dup	XP_011515543.1:n.833-222_833-215dup
XM_011517242.2:c.833-222_833-215dup	XP_011515544.1:n.833-222_833-215dup
XM_011517243.2:c.833-222_833-215dup	XP_011515545.1:n.833-222_833-215dup
XM_011517245.2:c.833-222_833-215dup	XP_011515547.1:n.833-222_833-215dup
XM_017013754.1:c.938-222_938-215dup	XP_016869243.1:n.938-222_938-215dup
XM_017013755.1:c.497-222_497-215dup	XP_016869244.1:n.497-222_497-215dup
XR_001745580.1:n.919-222_919-215dup
XR_001745581.1:n.919-222_919-215dup
XR_001745582.1:n.919-222_919-215dup
XR_001745583.1:n.919-222_919-215dup
NM_001374321.1:c.833-222_833-215dup	NP_001361250.1:n.833-222_833-215dup
NM_003114.5:c.833-222_833-215dup MANE Select	NP_003105.2:n.833-222_833-215dup
NM_172218.3:c.833-222_833-215dup	NP_757367.1:n.833-222_833-215dup