Canonical Allele Identifier: CA2638710666

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50195792-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195794del , CM000679.2:g.50195794del	GRCh38
NC_000017.10:g.48273155del , CM000679.1:g.48273155del	GRCh37
NC_000017.9:g.45628154del	NCBI36
NG_007400.1:g.10847del , LRG_1:g.10847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1057-128del MANE Select	ENSP00000225964.6:n.1057-128del
ENST00000225964.9:c.1057-128del	ENSP00000225964.5:n.1057-128del
NM_000088.3:c.1057-128del , LRG_1t1:c.1057-128del	NP_000079.2:n.1057-128del
XM_005257058.3:c.1057-128del	XP_005257115.2:n.1057-128del
XM_005257059.3:c.957+521del	XP_005257116.2:n.957+521del
XM_011524341.1:c.958-315del	XP_011522643.1:n.958-315del
XM_005257058.4:c.1057-128del	XP_005257115.2:n.1057-128del
XM_005257059.4:c.957+521del	XP_005257116.2:n.957+521del
NM_000088.4:c.1057-128del MANE Select	NP_000079.2:n.1057-128del