Canonical Allele Identifier: CA2559048497

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194636_50194638del , CM000679.2:g.50194636_50194638del	GRCh38
NC_000017.10:g.48271997_48271999del , CM000679.1:g.48271997_48271999del	GRCh37
NC_000017.9:g.45626996_45626998del	NCBI36
NG_007400.1:g.12007_12009del , LRG_1:g.12007_12009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1462-7_1462-5del MANE Select	ENSP00000225964.6:n.1462-7_1462-5del
ENST00000225964.9:c.1462-7_1462-5del	ENSP00000225964.5:n.1462-7_1462-5del
ENST00000471344.1:n.406-7_406-5del
NM_000088.3:c.1462-7_1462-5del , LRG_1t1:c.1462-7_1462-5del	NP_000079.2:n.1462-7_1462-5del
XM_005257058.3:c.1462-7_1462-5del	XP_005257115.2:n.1462-7_1462-5del
XM_005257059.3:c.957+1681_957+1683del	XP_005257116.2:n.957+1681_957+1683del
XM_011524341.1:c.1264-7_1264-5del	XP_011522643.1:n.1264-7_1264-5del
XM_005257058.4:c.1462-7_1462-5del	XP_005257115.2:n.1462-7_1462-5del
XM_005257059.4:c.957+1681_957+1683del	XP_005257116.2:n.957+1681_957+1683del
NM_000088.4:c.1462-7_1462-5del MANE Select	NP_000079.2:n.1462-7_1462-5del