Canonical Allele Identifier: CA10588663

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 265644
• ClinVar RCV Id: RCV000255369 ; RCV001859490
• dbSNP Id: rs886039693
• MyVariant Identifiers: chr17:g.48265975del (hg19) ; chr17:g.50188614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188617del , CM000679.2:g.50188617del	GRCh38
NC_000017.10:g.48265978del , CM000679.1:g.48265978del	GRCh37
NC_000017.9:g.45620977del	NCBI36
NG_007400.1:g.18026del , LRG_1:g.18026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3123del MANE Select	ENSP00000225964.6:p.Ala1042LeufsTer?
ENST00000225964.9:c.3123del	ENSP00000225964.5:p.Ala1042LeufsTer?
ENST00000511732.1:n.67del
NM_000088.3:c.3123del , LRG_1t1:c.3123del	NP_000079.2:p.Ala1042LeufsTer?
XM_005257058.3:c.2853del	XP_005257115.2:p.Ala952LeufsTer?
XM_005257059.3:c.2205del	XP_005257116.2:p.Ala736LeufsTer?
XM_011524341.1:c.2925del	XP_011522643.1:p.Ala976LeufsTer?
XM_005257058.4:c.2853del	XP_005257115.2:p.Ala952LeufsTer?
XM_005257059.4:c.2205del	XP_005257116.2:p.Ala736LeufsTer?
NM_000088.4:c.3123del MANE Select	NP_000079.2:p.Ala1042LeufsTer?