Canonical Allele Identifier: CA33504202
Gene: HMCN1 HGNC NCBI
gnomAD v2:
1:186143561 C / CA
gnomAD v3:
1:186174429 C / CA
gnomAD v4:
chr1-186174429-C-CA
Joint Max Group AF 0.00420827 (AFR)
Genomes Max Group AF 0.00426712 (AFR)
Exomes Max Group AF 0.00375868 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186174431dup , CM000663.2:g.186174431dup GRCh38
NC_000001.10:g.186143563dup , CM000663.1:g.186143563dup GRCh37
NC_000001.9:g.184410186dup NCBI36
NG_011841.1:g.444881dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15815-83dup MANE Select ENSP00000271588.4:n.15815-83dup
ENST00000271588.8:c.15815-83dup ENSP00000271588.4:n.15815-83dup
ENST00000414277.1:c.191-83dup ENSP00000406205.1:n.191-83dup
NM_031935.2:c.15815-83dup NP_114141.2:n.15815-83dup
XM_011510037.1:c.15530-83dup XP_011508339.1:n.15530-83dup
XM_011510038.1:c.15815-83dup XP_011508340.1:n.15815-83dup
XM_011510038.3:c.15815-83dup XP_011508340.1:n.15815-83dup
XM_017002437.1:c.13838-83dup XP_016857926.1:n.13838-83dup
NM_031935.3:c.15815-83dup MANE Select NP_114141.2:n.15815-83dup
Search 100 bp 5'
Search 100 bp 3'