Canonical Allele Identifier: CA527684196
Gene: HMCN1 HGNC NCBI
gnomAD v2:
1:186141100 ATT / A
gnomAD v3:
1:186171968 ATT / A
gnomAD v4:
chr1-186171968-ATT-A
Joint Max Group AF 0.00004365 (EAS)
Genomes Max Group AF 0.00015688 (EAS)
Exomes Max Group AF 0.0000084 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186171971_186171972del , CM000663.2:g.186171971_186171972del GRCh38
NC_000001.10:g.186141103_186141104del , CM000663.1:g.186141103_186141104del GRCh37
NC_000001.9:g.184407726_184407727del NCBI36
NG_011841.1:g.442421_442422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15689-35_15689-34del MANE Select ENSP00000271588.4:n.15689-35_15689-34del
ENST00000271588.8:c.15689-35_15689-34del ENSP00000271588.4:n.15689-35_15689-34del
ENST00000414277.1:c.65-35_65-34del ENSP00000406205.1:n.65-35_65-34del
ENST00000475585.1:n.277-35_277-34del
NM_031935.2:c.15689-35_15689-34del NP_114141.2:n.15689-35_15689-34del
XM_011510037.1:c.15404-35_15404-34del XP_011508339.1:n.15404-35_15404-34del
XM_011510038.1:c.15689-35_15689-34del XP_011508340.1:n.15689-35_15689-34del
XM_011510038.3:c.15689-35_15689-34del XP_011508340.1:n.15689-35_15689-34del
XM_017002437.1:c.13712-35_13712-34del XP_016857926.1:n.13712-35_13712-34del
NM_031935.3:c.15689-35_15689-34del MANE Select NP_114141.2:n.15689-35_15689-34del
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