Canonical Allele Identifier: CA665520716

Gene: MARCHF8

Linked Data

• dbSNP Id: rs1248946227
• gnomAD v3: 10-45459582-GAA-G
• gnomAD v4: 10-45459582-GAA-G
• MyVariant Identifiers: chr10:g.45955031_45955032del (hg19) ; chr10:g.45459583_45459584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.45459585_45459586del , CM000672.2:g.45459585_45459586del	GRCh38
NC_000010.10:g.45955033_45955034del , CM000672.1:g.45955033_45955034del	GRCh37
NC_000010.9:g.45275039_45275040del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453424.7:c.1270-317_1270-316del MANE Select	ENSP00000411848.2:n.1270-317_1270-316del
ENST00000319836.7:c.424-317_424-316del	ENSP00000317087.3:n.424-317_424-316del
ENST00000395769.6:c.424-317_424-316del	ENSP00000379116.2:n.424-317_424-316del
ENST00000453424.6:c.1270-317_1270-316del	ENSP00000411848.2:n.1270-317_1270-316del
ENST00000476962.1:n.975-317_975-316del
NM_001002266.2:c.424-317_424-316del	NP_001002266.1:n.424-317_424-316del
NM_001282866.1:c.1270-317_1270-316del	NP_001269795.1:n.1270-317_1270-316del
NM_145021.5:c.424-317_424-316del	NP_659458.2:n.424-317_424-316del
XM_005271804.1:c.1270-317_1270-316del	XP_005271861.1:n.1270-317_1270-316del
XM_006717704.2:c.1270-317_1270-316del	XP_006717767.1:n.1270-317_1270-316del
XM_006717705.1:c.1270-317_1270-316del	XP_006717768.1:n.1270-317_1270-316del
XM_011539492.1:c.1270-317_1270-316del	XP_011537794.1:n.1270-317_1270-316del
XM_011539493.1:c.1270-317_1270-316del	XP_011537795.1:n.1270-317_1270-316del
XM_011539494.1:c.1270-317_1270-316del	XP_011537796.1:n.1270-317_1270-316del
XM_011539495.1:c.424-317_424-316del	XP_011537797.1:n.424-317_424-316del
XR_246519.1:n.2094+156_2094+157del
XM_005271804.3:c.1270-317_1270-316del	XP_005271861.1:n.1270-317_1270-316del
XM_011539492.3:c.1270-317_1270-316del	XP_011537794.1:n.1270-317_1270-316del
XR_246519.3:n.2153+156_2153+157del
NM_001282866.2:c.1270-317_1270-316del MANE Select	NP_001269795.1:n.1270-317_1270-316del
NM_001002266.3:c.424-317_424-316del	NP_001002266.1:n.424-317_424-316del
NM_145021.6:c.424-317_424-316del	NP_659458.2:n.424-317_424-316del
NM_001401645.1:c.1270-317_1270-316del	NP_001388574.1:n.1270-317_1270-316del
NM_001401646.1:c.1270-317_1270-316del	NP_001388575.1:n.1270-317_1270-316del