Canonical Allele Identifier: CA2263917318

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907187614

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192543_50192544del , CM000679.2:g.50192543_50192544del	GRCh38
NC_000017.10:g.48269904_48269905del , CM000679.1:g.48269904_48269905del	GRCh37
NC_000017.9:g.45624903_45624904del	NCBI36
NG_007400.1:g.14096_14097del , LRG_1:g.14096_14097del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930-16_1930-15del MANE Select	ENSP00000225964.6:n.1930-16_1930-15del
ENST00000225964.9:c.1930-16_1930-15del	ENSP00000225964.5:n.1930-16_1930-15del
ENST00000476387.1:n.279-16_279-15del
NM_000088.3:c.1930-16_1930-15del , LRG_1t1:c.1930-16_1930-15del	NP_000079.2:n.1930-16_1930-15del
XM_005257058.3:c.1930-16_1930-15del	XP_005257115.2:n.1930-16_1930-15del
XM_005257059.3:c.1012-16_1012-15del	XP_005257116.2:n.1012-16_1012-15del
XM_011524341.1:c.1732-16_1732-15del	XP_011522643.1:n.1732-16_1732-15del
XM_005257058.4:c.1930-16_1930-15del	XP_005257115.2:n.1930-16_1930-15del
XM_005257059.4:c.1012-16_1012-15del	XP_005257116.2:n.1012-16_1012-15del
NM_000088.4:c.1930-16_1930-15del MANE Select	NP_000079.2:n.1930-16_1930-15del