Canonical Allele Identifier: CA2638709344

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50192773-G-GATCTCCCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192774_50192783dup , CM000679.2:g.50192774_50192783dup	GRCh38
NC_000017.10:g.48270135_48270144dup , CM000679.1:g.48270135_48270144dup	GRCh37
NC_000017.9:g.45625134_45625143dup	NCBI36
NG_007400.1:g.13857_13866dup , LRG_1:g.13857_13866dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+14_1875+23dup MANE Select	ENSP00000225964.6:n.1875+14_1875+23dup
ENST00000225964.9:c.1875+14_1875+23dup	ENSP00000225964.5:n.1875+14_1875+23dup
ENST00000476387.1:n.224+14_224+23dup
NM_000088.3:c.1875+14_1875+23dup , LRG_1t1:c.1875+14_1875+23dup	NP_000079.2:n.1875+14_1875+23dup
XM_005257058.3:c.1875+14_1875+23dup	XP_005257115.2:n.1875+14_1875+23dup
XM_005257059.3:c.958-90_958-81dup	XP_005257116.2:n.958-90_958-81dup
XM_011524341.1:c.1677+14_1677+23dup	XP_011522643.1:n.1677+14_1677+23dup
XM_005257058.4:c.1875+14_1875+23dup	XP_005257115.2:n.1875+14_1875+23dup
XM_005257059.4:c.958-90_958-81dup	XP_005257116.2:n.958-90_958-81dup
NM_000088.4:c.1875+14_1875+23dup MANE Select	NP_000079.2:n.1875+14_1875+23dup