Canonical Allele Identifier: CA291546869

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 580344
• ClinVar RCV Id: RCV000703850 ; RCV002250685 ; RCV003334391 ; RCV002325428 ; RCV003128653
• dbSNP Id: rs72645370
• gnomAD v4: 17-50195593-CA-C
• MyVariant Identifiers: chr17:g.48272955del (hg19) ; chr17:g.50195594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195594del , CM000679.2:g.50195594del	GRCh38
NC_000017.10:g.48272955del , CM000679.1:g.48272955del	GRCh37
NC_000017.9:g.45627954del	NCBI36
NG_007400.1:g.11046del , LRG_1:g.11046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1128del MANE Select	ENSP00000225964.6:p.Gly377AlafsTer?
ENST00000225964.9:c.1128del	ENSP00000225964.5:p.Gly377AlafsTer?
ENST00000471344.1:n.72del
NM_000088.3:c.1128del , LRG_1t1:c.1128del	NP_000079.2:p.Gly377AlafsTer?
XM_005257058.3:c.1128del	XP_005257115.2:p.Gly377AlafsTer?
XM_005257059.3:c.957+720del	XP_005257116.2:n.957+720del
XM_011524341.1:c.958-116del	XP_011522643.1:n.958-116del
XM_005257058.4:c.1128del	XP_005257115.2:p.Gly377AlafsTer?
XM_005257059.4:c.957+720del	XP_005257116.2:n.957+720del
NM_000088.4:c.1128del MANE Select	NP_000079.2:p.Gly377AlafsTer?