Canonical Allele Identifier: CA527676295

Gene: HMCN1

Linked Data

• dbSNP Id: rs747173866
• gnomAD v2: 1-186008849-G-GT
• gnomAD v3: 1-186039717-G-GT
• gnomAD v4: 1-186039717-G-GT
• MyVariant Identifiers: chr1:g.186008849_186008850insT (hg19) ; chr1:g.186039717_186039718insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186039724dup , CM000663.2:g.186039724dup	GRCh38
NC_000001.10:g.186008856dup , CM000663.1:g.186008856dup	GRCh37
NC_000001.9:g.184275479dup	NCBI36
NG_011841.1:g.310174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.6029-4dup MANE Select	ENSP00000271588.4:n.6029-4dup
ENST00000271588.8:c.6029-4dup	ENSP00000271588.4:n.6029-4dup
NM_031935.2:c.6029-4dup	NP_114141.2:n.6029-4dup
XM_011510037.1:c.6029-4dup	XP_011508339.1:n.6029-4dup
XM_011510038.1:c.6029-4dup	XP_011508340.1:n.6029-4dup
XM_011510039.1:c.6029-4dup	XP_011508341.1:n.6029-4dup
XM_011510040.1:c.6029-4dup	XP_011508342.1:n.6029-4dup
XM_011510041.1:c.6029-4dup	XP_011508343.1:n.6029-4dup
XM_011510038.3:c.6029-4dup	XP_011508340.1:n.6029-4dup
XM_011510041.3:c.6029-4dup	XP_011508343.1:n.6029-4dup
XM_017002437.1:c.4052-4dup	XP_016857926.1:n.4052-4dup
XM_024450118.1:c.6029-4dup	XP_024305886.1:n.6029-4dup
NM_031935.3:c.6029-4dup MANE Select	NP_114141.2:n.6029-4dup