Canonical Allele Identifier: CA500847937

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270054_48270156del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192694_50192796del , CM000679.2:g.50192694_50192796del	GRCh38
NC_000017.10:g.48270055_48270157del , CM000679.1:g.48270055_48270157del	GRCh37
NC_000017.9:g.45625054_45625156del	NCBI36
NG_007400.1:g.13845_13947del , LRG_1:g.13845_13947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+2_1876del
ENST00000225964.9:c.1875+2_1876del
ENST00000476387.1:n.224+2_225del
NM_000088.3:c.1875+2_1876del , LRG_1t1:c.1875+2_1876del
XM_005257058.3:c.1875+2_1876del
XM_005257059.3:c.958-102_958del
XM_011524341.1:c.1677+2_1678del
XM_005257058.4:c.1875+2_1876del
XM_005257059.4:c.958-102_958del
NM_000088.4:c.1875+2_1876del