Canonical Allele Identifier: CA2638710135

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193891-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193892del , CM000679.2:g.50193892del	GRCh38
NC_000017.10:g.48271253del , CM000679.1:g.48271253del	GRCh37
NC_000017.9:g.45626252del	NCBI36
NG_007400.1:g.12748del , LRG_1:g.12748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+51del MANE Select	ENSP00000225964.6:n.1767+51del
ENST00000225964.9:c.1767+51del	ENSP00000225964.5:n.1767+51del
ENST00000463440.1:n.208del
ENST00000471344.1:n.850del
ENST00000476387.1:n.116+51del
NM_000088.3:c.1767+51del , LRG_1t1:c.1767+51del	NP_000079.2:n.1767+51del
XM_005257058.3:c.1767+51del	XP_005257115.2:n.1767+51del
XM_005257059.3:c.958-1199del	XP_005257116.2:n.958-1199del
XM_011524341.1:c.1569+51del	XP_011522643.1:n.1569+51del
XM_005257058.4:c.1767+51del	XP_005257115.2:n.1767+51del
XM_005257059.4:c.958-1199del	XP_005257116.2:n.958-1199del
NM_000088.4:c.1767+51del MANE Select	NP_000079.2:n.1767+51del