Canonical Allele Identifier: CA2263918303

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907407137
• gnomAD v4: 17-50194655-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194658_50194659del , CM000679.2:g.50194658_50194659del	GRCh38
NC_000017.10:g.48272019_48272020del , CM000679.1:g.48272019_48272020del	GRCh37
NC_000017.9:g.45627018_45627019del	NCBI36
NG_007400.1:g.11983_11984del , LRG_1:g.11983_11984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1462-31_1462-30del MANE Select	ENSP00000225964.6:n.1462-31_1462-30del
ENST00000225964.9:c.1462-31_1462-30del	ENSP00000225964.5:n.1462-31_1462-30del
ENST00000471344.1:n.406-31_406-30del
NM_000088.3:c.1462-31_1462-30del , LRG_1t1:c.1462-31_1462-30del	NP_000079.2:n.1462-31_1462-30del
XM_005257058.3:c.1462-31_1462-30del	XP_005257115.2:n.1462-31_1462-30del
XM_005257059.3:c.957+1657_957+1658del	XP_005257116.2:n.957+1657_957+1658del
XM_011524341.1:c.1264-31_1264-30del	XP_011522643.1:n.1264-31_1264-30del
XM_005257058.4:c.1462-31_1462-30del	XP_005257115.2:n.1462-31_1462-30del
XM_005257059.4:c.957+1657_957+1658del	XP_005257116.2:n.957+1657_957+1658del
NM_000088.4:c.1462-31_1462-30del MANE Select	NP_000079.2:n.1462-31_1462-30del