Canonical Allele Identifier: CA2576317518

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197098del , CM000679.2:g.50197098del	GRCh38
NC_000017.10:g.48274459del , CM000679.1:g.48274459del	GRCh37
NC_000017.9:g.45629458del	NCBI36
NG_007400.1:g.9543del , LRG_1:g.9543del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-34del MANE Select	ENSP00000225964.6:n.751-34del
ENST00000225964.9:c.751-34del	ENSP00000225964.5:n.751-34del
ENST00000495677.1:n.478-34del
NM_000088.3:c.751-34del , LRG_1t1:c.751-34del	NP_000079.2:n.751-34del
XM_005257058.3:c.751-34del	XP_005257115.2:n.751-34del
XM_005257059.3:c.751-34del	XP_005257116.2:n.751-34del
XM_011524341.1:c.751-34del	XP_011522643.1:n.751-34del
XM_005257058.4:c.751-34del	XP_005257115.2:n.751-34del
XM_005257059.4:c.751-34del	XP_005257116.2:n.751-34del
NM_000088.4:c.751-34del MANE Select	NP_000079.2:n.751-34del