Canonical Allele Identifier: CA772776240

Gene: COL1A1

Linked Data

• dbSNP Id: rs1191350593
• MyVariant Identifiers: chr17:g.48276336_48276351del (hg19) ; chr17:g.50198975_50198990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198978_50198993del , CM000679.2:g.50198978_50198993del	GRCh38
NC_000017.10:g.48276339_48276354del , CM000679.1:g.48276339_48276354del	GRCh37
NC_000017.9:g.45631338_45631353del	NCBI36
NG_007400.1:g.7650_7665del , LRG_1:g.7650_7665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+236_471+251del MANE Select	ENSP00000225964.6:n.471+236_471+251del
ENST00000225964.9:c.471+236_471+251del	ENSP00000225964.5:n.471+236_471+251del
NM_000088.3:c.471+236_471+251del , LRG_1t1:c.471+236_471+251del	NP_000079.2:n.471+236_471+251del
XM_005257058.3:c.471+236_471+251del	XP_005257115.2:n.471+236_471+251del
XM_005257059.3:c.471+236_471+251del	XP_005257116.2:n.471+236_471+251del
XM_011524341.1:c.471+236_471+251del	XP_011522643.1:n.471+236_471+251del
XM_005257058.4:c.471+236_471+251del	XP_005257115.2:n.471+236_471+251del
XM_005257059.4:c.471+236_471+251del	XP_005257116.2:n.471+236_471+251del
NM_000088.4:c.471+236_471+251del MANE Select	NP_000079.2:n.471+236_471+251del