Canonical Allele Identifier: CA291550343

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 982088
• ClinVar RCV Id: RCV003517320
• dbSNP Id: rs72667017
• MyVariant Identifiers: chr17:g.48276599del (hg19) ; chr17:g.50199238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199238del , CM000679.2:g.50199238del	GRCh38
NC_000017.10:g.48276599del , CM000679.1:g.48276599del	GRCh37
NC_000017.9:g.45631598del	NCBI36
NG_007400.1:g.7402del , LRG_1:g.7402del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.459del MANE Select	ENSP00000225964.6:p.Gly154AlafsTer?
ENST00000225964.9:c.459del	ENSP00000225964.5:p.Gly154AlafsTer?
NM_000088.3:c.459del , LRG_1t1:c.459del	NP_000079.2:p.Gly154AlafsTer?
XM_005257058.3:c.459del	XP_005257115.2:p.Gly154AlafsTer?
XM_005257059.3:c.459del	XP_005257116.2:p.Gly154AlafsTer?
XM_011524341.1:c.459del	XP_011522643.1:p.Gly154AlafsTer?
XM_005257058.4:c.459del	XP_005257115.2:p.Gly154AlafsTer?
XM_005257059.4:c.459del	XP_005257116.2:p.Gly154AlafsTer?
NM_000088.4:c.459del MANE Select	NP_000079.2:p.Gly154AlafsTer?