Canonical Allele Identifier: CA658798896

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 523924
• ClinVar RCV Id: RCV000627400
• dbSNP Id: rs1555573696
• MyVariant Identifiers: chr17:g.48271541del (hg19) ; chr17:g.50194180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194180del , CM000679.2:g.50194180del	GRCh38
NC_000017.10:g.48271541del , CM000679.1:g.48271541del	GRCh37
NC_000017.9:g.45626540del	NCBI36
NG_007400.1:g.12460del , LRG_1:g.12460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1618del MANE Select	ENSP00000225964.6:p.Leu540Ter
ENST00000225964.9:c.1618del	ENSP00000225964.5:p.Leu540Ter
ENST00000463440.1:n.8del
ENST00000471344.1:n.562del
NM_000088.3:c.1618del , LRG_1t1:c.1618del	NP_000079.2:p.Leu540Ter
XM_005257058.3:c.1618del	XP_005257115.2:p.Leu540Ter
XM_005257059.3:c.958-1487del	XP_005257116.2:n.958-1487del
XM_011524341.1:c.1420del	XP_011522643.1:p.Leu474Ter
XM_005257058.4:c.1618del	XP_005257115.2:p.Leu540Ter
XM_005257059.4:c.958-1487del	XP_005257116.2:n.958-1487del
NM_000088.4:c.1618del MANE Select	NP_000079.2:p.Leu540Ter