Canonical Allele Identifier: CA2809757407

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196531_50196618del , CM000679.2:g.50196531_50196618del	GRCh38
NC_000017.10:g.48273892_48273979del , CM000679.1:g.48273892_48273979del	GRCh37
NC_000017.9:g.45628891_45628978del	NCBI36
NG_007400.1:g.10025_10112del , LRG_1:g.10025_10112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+2_859del
ENST00000225964.9:c.858+2_859del
ENST00000495677.1:n.585+2_586del
NM_000088.3:c.858+2_859del , LRG_1t1:c.858+2_859del
XM_005257058.3:c.858+2_859del
XM_005257059.3:c.858+2_859del
XM_011524341.1:c.858+2_859del
XM_005257058.4:c.858+2_859del
XM_005257059.4:c.858+2_859del
NM_000088.4:c.858+2_859del