Canonical Allele Identifier: CA2638680090

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198591-A-ACTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198594_50198597dup , CM000679.2:g.50198594_50198597dup	GRCh38
NC_000017.10:g.48275955_48275958dup , CM000679.1:g.48275955_48275958dup	GRCh37
NC_000017.9:g.45630954_45630957dup	NCBI36
NG_007400.1:g.8045_8048dup , LRG_1:g.8045_8048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-91_472-88dup MANE Select	ENSP00000225964.6:n.472-91_472-88dup
ENST00000225964.9:c.472-91_472-88dup	ENSP00000225964.5:n.472-91_472-88dup
ENST00000495677.1:n.108_111dup
NM_000088.3:c.472-91_472-88dup , LRG_1t1:c.472-91_472-88dup	NP_000079.2:n.472-91_472-88dup
XM_005257058.3:c.472-91_472-88dup	XP_005257115.2:n.472-91_472-88dup
XM_005257059.3:c.472-91_472-88dup	XP_005257116.2:n.472-91_472-88dup
XM_011524341.1:c.472-91_472-88dup	XP_011522643.1:n.472-91_472-88dup
XM_005257058.4:c.472-91_472-88dup	XP_005257115.2:n.472-91_472-88dup
XM_005257059.4:c.472-91_472-88dup	XP_005257116.2:n.472-91_472-88dup
NM_000088.4:c.472-91_472-88dup MANE Select	NP_000079.2:n.472-91_472-88dup