Canonical Allele Identifier: CA8645221

Gene: COL1A1

Linked Data

• dbSNP Id: rs780361113
• ExAC: 17:48271910 CCCCCGGCCGCAAGGAGAGGT / C
• gnomAD v2: 17-48271910-CCCCCGGCCGCAAGGAGAGGT-C
• gnomAD v4: 17-50194549-CCCCCGGCCGCAAGGAGAGGT-C
• MyVariant Identifiers: chr17:g.48271911_48271930del (hg19) ; chr17:g.50194550_50194569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194550_50194569del , CM000679.2:g.50194550_50194569del	GRCh38
NC_000017.10:g.48271911_48271930del , CM000679.1:g.48271911_48271930del	GRCh37
NC_000017.9:g.45626910_45626929del	NCBI36
NG_007400.1:g.12071_12090del , LRG_1:g.12071_12090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+4_1515+23del MANE Select	ENSP00000225964.6:n.1515+4_1515+23del
ENST00000225964.9:c.1515+4_1515+23del	ENSP00000225964.5:n.1515+4_1515+23del
ENST00000471344.1:n.459+4_459+23del
NM_000088.3:c.1515+4_1515+23del , LRG_1t1:c.1515+4_1515+23del	NP_000079.2:n.1515+4_1515+23del
XM_005257058.3:c.1515+4_1515+23del	XP_005257115.2:n.1515+4_1515+23del
XM_005257059.3:c.957+1745_957+1764del	XP_005257116.2:n.957+1745_957+1764del
XM_011524341.1:c.1317+4_1317+23del	XP_011522643.1:n.1317+4_1317+23del
XM_005257058.4:c.1515+4_1515+23del	XP_005257115.2:n.1515+4_1515+23del
XM_005257059.4:c.957+1745_957+1764del	XP_005257116.2:n.957+1745_957+1764del
NM_000088.4:c.1515+4_1515+23del MANE Select	NP_000079.2:n.1515+4_1515+23del