Canonical Allele Identifier: CA2576317239

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50190165-T-TGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190168_50190170dup , CM000679.2:g.50190168_50190170dup	GRCh38
NC_000017.10:g.48267529_48267531dup , CM000679.1:g.48267529_48267531dup	GRCh37
NC_000017.9:g.45622528_45622530dup	NCBI36
NG_007400.1:g.16472_16474dup , LRG_1:g.16472_16474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2452-60_2452-58dup MANE Select	ENSP00000225964.6:n.2452-60_2452-58dup
ENST00000225964.9:c.2452-60_2452-58dup	ENSP00000225964.5:n.2452-60_2452-58dup
NM_000088.3:c.2452-60_2452-58dup , LRG_1t1:c.2452-60_2452-58dup	NP_000079.2:n.2452-60_2452-58dup
XM_005257058.3:c.2452-60_2452-58dup	XP_005257115.2:n.2452-60_2452-58dup
XM_005257059.3:c.1534-60_1534-58dup	XP_005257116.2:n.1534-60_1534-58dup
XM_011524341.1:c.2254-60_2254-58dup	XP_011522643.1:n.2254-60_2254-58dup
XM_005257058.4:c.2452-60_2452-58dup	XP_005257115.2:n.2452-60_2452-58dup
XM_005257059.4:c.1534-60_1534-58dup	XP_005257116.2:n.1534-60_1534-58dup
NM_000088.4:c.2452-60_2452-58dup MANE Select	NP_000079.2:n.2452-60_2452-58dup