Canonical Allele Identifier: CA2638681250

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199152-T-TATA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199154_50199156dup , CM000679.2:g.50199154_50199156dup	GRCh38
NC_000017.10:g.48276515_48276517dup , CM000679.1:g.48276515_48276517dup	GRCh37
NC_000017.9:g.45631514_45631516dup	NCBI36
NG_007400.1:g.7485_7487dup , LRG_1:g.7485_7487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+71_471+73dup MANE Select	ENSP00000225964.6:n.471+71_471+73dup
ENST00000225964.9:c.471+71_471+73dup	ENSP00000225964.5:n.471+71_471+73dup
NM_000088.3:c.471+71_471+73dup , LRG_1t1:c.471+71_471+73dup	NP_000079.2:n.471+71_471+73dup
XM_005257058.3:c.471+71_471+73dup	XP_005257115.2:n.471+71_471+73dup
XM_005257059.3:c.471+71_471+73dup	XP_005257116.2:n.471+71_471+73dup
XM_011524341.1:c.471+71_471+73dup	XP_011522643.1:n.471+71_471+73dup
XM_005257058.4:c.471+71_471+73dup	XP_005257115.2:n.471+71_471+73dup
XM_005257059.4:c.471+71_471+73dup	XP_005257116.2:n.471+71_471+73dup
NM_000088.4:c.471+71_471+73dup MANE Select	NP_000079.2:n.471+71_471+73dup