Canonical Allele Identifier: CA184876756

Gene: COLEC10

Linked Data

• dbSNP Id: rs559150434
• gnomAD v3: 8-119000498-AC-A
• gnomAD v4: 8-119000498-AC-A
• MyVariant Identifiers: chr8:g.120012738del (hg19) ; chr8:g.119000499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000500del , CM000670.2:g.119000500del	GRCh38
NC_000008.10:g.120012739del , CM000670.1:g.120012739del	GRCh37
NC_000008.9:g.120081920del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521788.1:n.122+4927del
XM_005250756.2:c.-60+48122del	XP_005250813.1:n.-60+48122del
NM_001324095.1:c.-323-36936del	NP_001311024.1:n.-323-36936del
XM_005250756.3:c.-60+48122del	XP_005250813.1:n.-60+48122del
NM_001324095.2:c.-323-36936del	NP_001311024.1:n.-323-36936del