Canonical Allele Identifier: CA734401875

Gene: MACO1

Linked Data

• dbSNP Id: rs1392558175
• MyVariant Identifiers: chr1:g.25768890_25768891del (hg19) ; chr1:g.25442399_25442400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25442401_25442402del , CM000663.2:g.25442401_25442402del	GRCh38
NC_000001.10:g.25768892_25768893del , CM000663.1:g.25768892_25768893del	GRCh37
NC_000001.9:g.25641479_25641480del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374343.5:c.81-4361_81-4360del MANE Select	ENSP00000363463.4:n.81-4361_81-4360del
ENST00000647928.1:c.81-4361_81-4360del	ENSP00000497738.1:n.81-4361_81-4360del
ENST00000374343.4:c.81-4361_81-4360del	ENSP00000363463.4:n.81-4361_81-4360del
ENST00000399766.7:c.81-4361_81-4360del	ENSP00000382668.3:n.81-4361_81-4360del
NM_001282564.1:c.81-4361_81-4360del	NP_001269493.1:n.81-4361_81-4360del
NM_018202.5:c.81-4361_81-4360del	NP_060672.2:n.81-4361_81-4360del
XM_005245931.1:c.81-4361_81-4360del	XP_005245988.1:n.81-4361_81-4360del
XM_011541704.1:c.-531-4361_-531-4360del	XP_011540006.1:n.-531-4361_-531-4360del
XM_005245931.2:c.81-4361_81-4360del	XP_005245988.1:n.81-4361_81-4360del
XM_011541704.3:c.-531-4361_-531-4360del	XP_011540006.1:n.-531-4361_-531-4360del
NM_018202.6:c.81-4361_81-4360del MANE Select	NP_060672.2:n.81-4361_81-4360del
NM_001282564.2:c.81-4361_81-4360del	NP_001269493.1:n.81-4361_81-4360del