Canonical Allele Identifier: CA2263915123

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906743995

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188405del , CM000679.2:g.50188405del	GRCh38
NC_000017.10:g.48265766del , CM000679.1:g.48265766del	GRCh37
NC_000017.9:g.45620765del	NCBI36
NG_007400.1:g.18235del , LRG_1:g.18235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+125del MANE Select	ENSP00000225964.6:n.3207+125del
ENST00000225964.9:c.3207+125del	ENSP00000225964.5:n.3207+125del
ENST00000486572.1:n.150del
ENST00000511732.1:n.276del
NM_000088.3:c.3207+125del , LRG_1t1:c.3207+125del	NP_000079.2:n.3207+125del
XM_005257058.3:c.2937+125del	XP_005257115.2:n.2937+125del
XM_005257059.3:c.2289+125del	XP_005257116.2:n.2289+125del
XM_011524341.1:c.3009+125del	XP_011522643.1:n.3009+125del
XM_005257058.4:c.2937+125del	XP_005257115.2:n.2937+125del
XM_005257059.4:c.2289+125del	XP_005257116.2:n.2289+125del
NM_000088.4:c.3207+125del MANE Select	NP_000079.2:n.3207+125del