Canonical Allele Identifier: CA8645219

Gene: COL1A1

Linked Data

• dbSNP Id: rs758833227
• ExAC: 17:48271908 G / GC
• gnomAD v2: 17-48271908-G-GC
• gnomAD v4: 17-50194547-G-GC
• MyVariant Identifiers: chr17:g.48271908_48271909insC (hg19) ; chr17:g.50194547_50194548insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194553dup , CM000679.2:g.50194553dup	GRCh38
NC_000017.10:g.48271914dup , CM000679.1:g.48271914dup	GRCh37
NC_000017.9:g.45626913dup	NCBI36
NG_007400.1:g.12092dup , LRG_1:g.12092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+25dup MANE Select	ENSP00000225964.6:n.1515+25dup
ENST00000225964.9:c.1515+25dup	ENSP00000225964.5:n.1515+25dup
ENST00000471344.1:n.459+25dup
NM_000088.3:c.1515+25dup , LRG_1t1:c.1515+25dup	NP_000079.2:n.1515+25dup
XM_005257058.3:c.1515+25dup	XP_005257115.2:n.1515+25dup
XM_005257059.3:c.957+1766dup	XP_005257116.2:n.957+1766dup
XM_011524341.1:c.1317+25dup	XP_011522643.1:n.1317+25dup
XM_005257058.4:c.1515+25dup	XP_005257115.2:n.1515+25dup
XM_005257059.4:c.957+1766dup	XP_005257116.2:n.957+1766dup
NM_000088.4:c.1515+25dup MANE Select	NP_000079.2:n.1515+25dup