Canonical Allele Identifier: CA2832529006

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349455_38349456dup , CM000677.2:g.38349455_38349456dup	GRCh38
NC_000015.9:g.38641656_38641657dup , CM000677.1:g.38641656_38641657dup	GRCh37
NC_000015.8:g.36428948_36428949dup	NCBI36
NG_008980.1:g.101605_101606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.616_617dup MANE Select	ENSP00000299084.4:p.Ser206ArgfsTer19
ENST00000299084.8:c.616_617dup	ENSP00000299084.4:p.Ser206ArgfsTer19
NM_152594.2:c.616_617dup	NP_689807.1:p.Ser206ArgfsTer19
XM_005254202.2:c.652_653dup	XP_005254259.1:p.Ser218ArgfsTer19
XM_005254203.3:c.394_395dup	XP_005254260.1:p.Ser132ArgfsTer19
XM_011521288.1:c.553_554dup	XP_011519590.1:p.Ser185ArgfsTer19
XM_011521289.1:c.553_554dup	XP_011519591.1:p.Ser185ArgfsTer19
XM_011521290.1:c.553_554dup	XP_011519592.1:p.Ser185ArgfsTer19
XM_005254202.3:c.652_653dup	XP_005254259.1:p.Ser218ArgfsTer19
XM_011521289.3:c.553_554dup	XP_011519591.1:p.Ser185ArgfsTer19
NM_152594.3:c.616_617dup MANE Select	NP_689807.1:p.Ser206ArgfsTer19