Canonical Allele Identifier: CA500842513

Gene: COL1A1

Linked Data

• dbSNP Id: rs1358952166
• gnomAD v2: 17-48262774-GA-G
• gnomAD v3: 17-50185413-GA-G
• gnomAD v4: 17-50185413-GA-G
• MyVariant Identifiers: chr17:g.48262775del (hg19) ; chr17:g.50185414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185414del , CM000679.2:g.50185414del	GRCh38
NC_000017.10:g.48262775del , CM000679.1:g.48262775del	GRCh37
NC_000017.9:g.45617774del	NCBI36
NG_007400.1:g.21226del , LRG_1:g.21226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*88del MANE Select	ENSP00000225964.6:n.*88del
ENST00000225964.9:c.*88del	ENSP00000225964.5:n.*88del
NM_000088.3:c.*88del , LRG_1t1:c.*88del	NP_000079.2:n.*88del
XM_005257058.3:c.*88del	XP_005257115.2:n.*88del
XM_005257059.3:c.*88del	XP_005257116.2:n.*88del
XM_011524341.1:c.*88del	XP_011522643.1:n.*88del
XM_005257058.4:c.*88del	XP_005257115.2:n.*88del
XM_005257059.4:c.*88del	XP_005257116.2:n.*88del
NM_000088.4:c.*88del MANE Select	NP_000079.2:n.*88del