Canonical Allele Identifier: CA2627716205

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351142-GGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351145_38351148del , CM000677.2:g.38351145_38351148del	GRCh38
NC_000015.9:g.38643346_38643349del , CM000677.1:g.38643346_38643349del	GRCh37
NC_000015.8:g.36430638_36430641del	NCBI36
NG_008980.1:g.103295_103298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.816_819del MANE Select	ENSP00000299084.4:p.Arg273MetfsTer29
ENST00000299084.8:c.816_819del	ENSP00000299084.4:p.Arg273MetfsTer29
NM_152594.2:c.816_819del	NP_689807.1:p.Arg273MetfsTer29
XM_005254202.2:c.852_855del	XP_005254259.1:p.Arg285MetfsTer29
XM_005254203.3:c.594_597del	XP_005254260.1:p.Arg199MetfsTer29
XM_011521288.1:c.753_756del	XP_011519590.1:p.Arg252MetfsTer29
XM_011521289.1:c.753_756del	XP_011519591.1:p.Arg252MetfsTer29
XM_011521290.1:c.753_756del	XP_011519592.1:p.Arg252MetfsTer29
XM_005254202.3:c.852_855del	XP_005254259.1:p.Arg285MetfsTer29
XM_011521289.3:c.753_756del	XP_011519591.1:p.Arg252MetfsTer29
NM_152594.3:c.816_819del MANE Select	NP_689807.1:p.Arg273MetfsTer29