Canonical Allele Identifier: CA913012762

Gene: COL1A1

Linked Data

• dbSNP Id: rs74315120
• MyVariant Identifiers: chr17:g.48271204_48271455del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193845_50194096del , CM000679.2:g.50193845_50194096del	GRCh38
NC_000017.10:g.48271206_48271457del , CM000679.1:g.48271206_48271457del	GRCh37
NC_000017.9:g.45626205_45626456del	NCBI36
NG_007400.1:g.12546_12797del , LRG_1:g.12546_12797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1668+36_1767+100del
ENST00000225964.9:c.1668+36_1767+100del
ENST00000463440.1:n.58+36_257del
ENST00000471344.1:n.648_899del
NM_000088.3:c.1668+36_1767+100del , LRG_1t1:c.1668+36_1767+100del
XM_005257058.3:c.1668+36_1767+100del
XM_005257059.3:c.958-1401_958-1150del	XP_005257116.2:n.958-1401_958-1150del
XM_011524341.1:c.1470+36_1569+100del
XM_005257058.4:c.1668+36_1767+100del
XM_005257059.4:c.958-1401_958-1150del	XP_005257116.2:n.958-1401_958-1150del
NM_000088.4:c.1668+36_1767+100del