Canonical Allele Identifier: CA2649560664

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186122929-TTATATTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186122938_186122948del , CM000663.2:g.186122938_186122948del	GRCh38
NC_000001.10:g.186092070_186092080del , CM000663.1:g.186092070_186092080del	GRCh37
NC_000001.9:g.184358693_184358703del	NCBI36
NG_011841.1:g.393388_393398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12230-13_12230-3del MANE Select	ENSP00000271588.4:n.12230-13_12230-3del
ENST00000271588.8:c.12230-13_12230-3del	ENSP00000271588.4:n.12230-13_12230-3del
NM_031935.2:c.12230-13_12230-3del	NP_114141.2:n.12230-13_12230-3del
XM_011510037.1:c.11945-13_11945-3del	XP_011508339.1:n.11945-13_11945-3del
XM_011510038.1:c.12230-13_12230-3del	XP_011508340.1:n.12230-13_12230-3del
XM_011510039.1:c.12230-13_12230-3del	XP_011508341.1:n.12230-13_12230-3del
XM_011510038.3:c.12230-13_12230-3del	XP_011508340.1:n.12230-13_12230-3del
XM_017002437.1:c.10253-13_10253-3del	XP_016857926.1:n.10253-13_10253-3del
NM_031935.3:c.12230-13_12230-3del MANE Select	NP_114141.2:n.12230-13_12230-3del