Canonical Allele Identifier: CA500849728

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194625-CCCTGCAGGAGGAGAGGAGGCCAGTGAACTCCGCGACACACAGGCACCAGCCAGGCAATGAGGGTGGAGCGGGAGGGGGCGGGCAGGGACACTTA-C
• MyVariant Identifiers: chr17:g.48271987_48272080del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194627_50194720del , CM000679.2:g.50194627_50194720del	GRCh38
NC_000017.10:g.48271988_48272081del , CM000679.1:g.48271988_48272081del	GRCh37
NC_000017.9:g.45626987_45627080del	NCBI36
NG_007400.1:g.11921_12014del , LRG_1:g.11921_12014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+2_1462del
ENST00000225964.9:c.1461+2_1462del
ENST00000471344.1:n.405+2_406del
NM_000088.3:c.1461+2_1462del , LRG_1t1:c.1461+2_1462del
XM_005257058.3:c.1461+2_1462del
XM_005257059.3:c.957+1595_957+1688del	XP_005257116.2:n.957+1595_957+1688del
XM_011524341.1:c.1263+2_1264del
XM_005257058.4:c.1461+2_1462del
XM_005257059.4:c.957+1595_957+1688del	XP_005257116.2:n.957+1595_957+1688del
NM_000088.4:c.1461+2_1462del