Canonical Allele Identifier: CA1294494
Gene: HMCN1 HGNC NCBI
gnomAD v2:
1:186099081 TTTC / T
gnomAD v3:
1:186129949 TTTC / T
gnomAD v4:
chr1-186129949-TTTC-T
Joint Max Group AF 0.00328598 (AFR)
Genomes Max Group AF 0.00313739 (AFR)
Exomes Max Group AF 0.00315408 (AFR)
ClinVar RCV:
RCV002116715
ClinVar Variation:
1587213
dbSNP:
532775140
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186129952_186129954del , CM000663.2:g.186129952_186129954del GRCh38
NC_000001.10:g.186099084_186099086del , CM000663.1:g.186099084_186099086del GRCh37
NC_000001.9:g.184365707_184365709del NCBI36
NG_011841.1:g.400402_400404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12905-14_12905-12del MANE Select ENSP00000271588.4:n.12905-14_12905-12del
ENST00000271588.8:c.12905-14_12905-12del ENSP00000271588.4:n.12905-14_12905-12del
NM_031935.2:c.12905-14_12905-12del NP_114141.2:n.12905-14_12905-12del
XM_011510037.1:c.12620-14_12620-12del XP_011508339.1:n.12620-14_12620-12del
XM_011510038.1:c.12905-14_12905-12del XP_011508340.1:n.12905-14_12905-12del
XM_011510039.1:c.12905-14_12905-12del XP_011508341.1:n.12905-14_12905-12del
XM_011510038.3:c.12905-14_12905-12del XP_011508340.1:n.12905-14_12905-12del
XM_017002437.1:c.10928-14_10928-12del XP_016857926.1:n.10928-14_10928-12del
NM_031935.3:c.12905-14_12905-12del MANE Select NP_114141.2:n.12905-14_12905-12del
Search 100 bp 5'
Search 100 bp 3'