Canonical Allele Identifier: CA626485994

Gene: COL1A1

Linked Data

• dbSNP Id: rs1427894126
• gnomAD v2: 17-48273649-TC-T
• gnomAD v4: 17-50196288-TC-T
• MyVariant Identifiers: chr17:g.48273650del (hg19) ; chr17:g.50196289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196293del , CM000679.2:g.50196293del	GRCh38
NC_000017.10:g.48273654del , CM000679.1:g.48273654del	GRCh37
NC_000017.9:g.45628653del	NCBI36
NG_007400.1:g.10351del , LRG_1:g.10351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957+25del MANE Select	ENSP00000225964.6:n.957+25del
ENST00000225964.9:c.957+25del	ENSP00000225964.5:n.957+25del
ENST00000485870.1:n.282+25del
NM_000088.3:c.957+25del , LRG_1t1:c.957+25del	NP_000079.2:n.957+25del
XM_005257058.3:c.957+25del	XP_005257115.2:n.957+25del
XM_005257059.3:c.957+25del	XP_005257116.2:n.957+25del
XM_011524341.1:c.957+25del	XP_011522643.1:n.957+25del
XM_005257058.4:c.957+25del	XP_005257115.2:n.957+25del
XM_005257059.4:c.957+25del	XP_005257116.2:n.957+25del
NM_000088.4:c.957+25del MANE Select	NP_000079.2:n.957+25del