Canonical Allele Identifier: CA291542738

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1219079
• ClinVar RCV Id: RCV001594275
• dbSNP Id: rs572791972
• gnomAD v2: 17-48262720-GA-G
• gnomAD v3: 17-50185359-GA-G
• gnomAD v4: 17-50185359-GA-G
• MyVariant Identifiers: chr17:g.48262721del (hg19) ; chr17:g.50185360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185366del , CM000679.2:g.50185366del	GRCh38
NC_000017.10:g.48262727del , CM000679.1:g.48262727del	GRCh37
NC_000017.9:g.45617726del	NCBI36
NG_007400.1:g.21280del , LRG_1:g.21280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*142del MANE Select	ENSP00000225964.6:n.*142del
ENST00000225964.9:c.*142del	ENSP00000225964.5:n.*142del
NM_000088.3:c.*142del , LRG_1t1:c.*142del	NP_000079.2:n.*142del
XM_005257058.3:c.*142del	XP_005257115.2:n.*142del
XM_005257059.3:c.*142del	XP_005257116.2:n.*142del
XM_011524341.1:c.*142del	XP_011522643.1:n.*142del
XM_005257058.4:c.*142del	XP_005257115.2:n.*142del
XM_005257059.4:c.*142del	XP_005257116.2:n.*142del
NM_000088.4:c.*142del MANE Select	NP_000079.2:n.*142del