Canonical Allele Identifier: CA2695226523

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196616_50196620del , CM000679.2:g.50196616_50196620del	GRCh38
NC_000017.10:g.48273977_48273981del , CM000679.1:g.48273977_48273981del	GRCh37
NC_000017.9:g.45628976_45628980del	NCBI36
NG_007400.1:g.10024_10028del , LRG_1:g.10024_10028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+1_858+5del
ENST00000225964.9:c.858+1_858+5del
ENST00000495677.1:n.585+1_585+5del
NM_000088.3:c.858+1_858+5del , LRG_1t1:c.858+1_858+5del
XM_005257058.3:c.858+1_858+5del
XM_005257059.3:c.858+1_858+5del
XM_011524341.1:c.858+1_858+5del
XM_005257058.4:c.858+1_858+5del
XM_005257059.4:c.858+1_858+5del
NM_000088.4:c.858+1_858+5del