Canonical Allele Identifier: CA291543057

Gene: COL1A1

Linked Data

• dbSNP Id: rs72654800
• MyVariant Identifiers: chr17:g.48265897del (hg19) ; chr17:g.50188536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188536del , CM000679.2:g.50188536del	GRCh38
NC_000017.10:g.48265897del , CM000679.1:g.48265897del	GRCh37
NC_000017.9:g.45620896del	NCBI36
NG_007400.1:g.18104del , LRG_1:g.18104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3201del MANE Select	ENSP00000225964.6:p.Glu1068ArgfsTer?
ENST00000225964.9:c.3201del	ENSP00000225964.5:p.Glu1068ArgfsTer?
ENST00000486572.1:n.19del
ENST00000511732.1:n.145del
NM_000088.3:c.3201del , LRG_1t1:c.3201del	NP_000079.2:p.Glu1068ArgfsTer?
XM_005257058.3:c.2931del	XP_005257115.2:p.Glu978ArgfsTer?
XM_005257059.3:c.2283del	XP_005257116.2:p.Glu762ArgfsTer?
XM_011524341.1:c.3003del	XP_011522643.1:p.Glu1002ArgfsTer?
XM_005257058.4:c.2931del	XP_005257115.2:p.Glu978ArgfsTer?
XM_005257059.4:c.2283del	XP_005257116.2:p.Glu762ArgfsTer?
NM_000088.4:c.3201del MANE Select	NP_000079.2:p.Glu1068ArgfsTer?