Canonical Allele Identifier: CA291546840

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 449401
• ClinVar RCV Id: RCV000522596
• dbSNP Id: rs72648316
• MyVariant Identifiers: chr17:g.48272922_48272925del (hg19) ; chr17:g.50195561_50195564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195563_50195566del , CM000679.2:g.50195563_50195566del	GRCh38
NC_000017.10:g.48272924_48272927del , CM000679.1:g.48272924_48272927del	GRCh37
NC_000017.9:g.45627923_45627926del	NCBI36
NG_007400.1:g.11076_11079del , LRG_1:g.11076_11079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1155+3_1155+6del MANE Select	ENSP00000225964.6:n.1155+3_1155+6del
ENST00000225964.9:c.1155+3_1155+6del	ENSP00000225964.5:n.1155+3_1155+6del
ENST00000471344.1:n.99+3_99+6del
NM_000088.3:c.1155+3_1155+6del , LRG_1t1:c.1155+3_1155+6del	NP_000079.2:n.1155+3_1155+6del
XM_005257058.3:c.1155+3_1155+6del	XP_005257115.2:n.1155+3_1155+6del
XM_005257059.3:c.957+750_957+753del	XP_005257116.2:n.957+750_957+753del
XM_011524341.1:c.958-86_958-83del	XP_011522643.1:n.958-86_958-83del
XM_005257058.4:c.1155+3_1155+6del	XP_005257115.2:n.1155+3_1155+6del
XM_005257059.4:c.957+750_957+753del	XP_005257116.2:n.957+750_957+753del
NM_000088.4:c.1155+3_1155+6del MANE Select	NP_000079.2:n.1155+3_1155+6del