Canonical Allele Identifier: CA8645522

Gene: COL1A1

Linked Data

• dbSNP Id: rs755716457
• ExAC: 17:48273951 GA / G
• gnomAD v2: 17-48273951-GA-G
• MyVariant Identifiers: chr17:g.48273952del (hg19) ; chr17:g.50196591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196591del , CM000679.2:g.50196591del	GRCh38
NC_000017.10:g.48273952del , CM000679.1:g.48273952del	GRCh37
NC_000017.9:g.45628951del	NCBI36
NG_007400.1:g.10049del , LRG_1:g.10049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+26del MANE Select	ENSP00000225964.6:n.858+26del
ENST00000225964.9:c.858+26del	ENSP00000225964.5:n.858+26del
ENST00000485870.1:n.5del
ENST00000495677.1:n.585+26del
NM_000088.3:c.858+26del , LRG_1t1:c.858+26del	NP_000079.2:n.858+26del
XM_005257058.3:c.858+26del	XP_005257115.2:n.858+26del
XM_005257059.3:c.858+26del	XP_005257116.2:n.858+26del
XM_011524341.1:c.858+26del	XP_011522643.1:n.858+26del
XM_005257058.4:c.858+26del	XP_005257115.2:n.858+26del
XM_005257059.4:c.858+26del	XP_005257116.2:n.858+26del
NM_000088.4:c.858+26del MANE Select	NP_000079.2:n.858+26del