Canonical Allele Identifier: CA2638681030

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198835-GGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198841_50198843del , CM000679.2:g.50198841_50198843del	GRCh38
NC_000017.10:g.48276202_48276204del , CM000679.1:g.48276202_48276204del	GRCh37
NC_000017.9:g.45631201_45631203del	NCBI36
NG_007400.1:g.7802_7804del , LRG_1:g.7802_7804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-334_472-332del MANE Select	ENSP00000225964.6:n.472-334_472-332del
ENST00000225964.9:c.472-334_472-332del	ENSP00000225964.5:n.472-334_472-332del
NM_000088.3:c.472-334_472-332del , LRG_1t1:c.472-334_472-332del	NP_000079.2:n.472-334_472-332del
XM_005257058.3:c.472-334_472-332del	XP_005257115.2:n.472-334_472-332del
XM_005257059.3:c.472-334_472-332del	XP_005257116.2:n.472-334_472-332del
XM_011524341.1:c.472-334_472-332del	XP_011522643.1:n.472-334_472-332del
XM_005257058.4:c.472-334_472-332del	XP_005257115.2:n.472-334_472-332del
XM_005257059.4:c.472-334_472-332del	XP_005257116.2:n.472-334_472-332del
NM_000088.4:c.472-334_472-332del MANE Select	NP_000079.2:n.472-334_472-332del