Canonical Allele Identifier: CA291547632

Gene: COL1A1

Linked Data

• dbSNP Id: rs761520958
• gnomAD v4: 17-50197129-ATGAAGCCCAAGTGCAG-A
• MyVariant Identifiers: chr17:g.48274491_48274506del (hg19) ; chr17:g.50197130_50197145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197139_50197154del , CM000679.2:g.50197139_50197154del	GRCh38
NC_000017.10:g.48274500_48274515del , CM000679.1:g.48274500_48274515del	GRCh37
NC_000017.9:g.45629499_45629514del	NCBI36
NG_007400.1:g.9495_9510del , LRG_1:g.9495_9510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.750+35_750+50del MANE Select	ENSP00000225964.6:n.750+35_750+50del
ENST00000225964.9:c.750+35_750+50del	ENSP00000225964.5:n.750+35_750+50del
ENST00000495677.1:n.477+35_477+50del
NM_000088.3:c.750+35_750+50del , LRG_1t1:c.750+35_750+50del	NP_000079.2:n.750+35_750+50del
XM_005257058.3:c.750+35_750+50del	XP_005257115.2:n.750+35_750+50del
XM_005257059.3:c.750+35_750+50del	XP_005257116.2:n.750+35_750+50del
XM_011524341.1:c.750+35_750+50del	XP_011522643.1:n.750+35_750+50del
XM_005257058.4:c.750+35_750+50del	XP_005257115.2:n.750+35_750+50del
XM_005257059.4:c.750+35_750+50del	XP_005257116.2:n.750+35_750+50del
NM_000088.4:c.750+35_750+50del MANE Select	NP_000079.2:n.750+35_750+50del