Canonical Allele Identifier: CA645569656

Gene: COL1A1

Linked Data

• COSMIC: COSM5958796

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196310_50196312del , CM000679.2:g.50196310_50196312del	GRCh38
NC_000017.10:g.48273671_48273673del , CM000679.1:g.48273671_48273673del	GRCh37
NC_000017.9:g.45628670_45628672del	NCBI36
NG_007400.1:g.10328_10330del , LRG_1:g.10328_10330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957+2_957+4del MANE Select	ENSP00000225964.6:n.957+2_957+4del
ENST00000225964.9:c.957+2_957+4del	ENSP00000225964.5:n.957+2_957+4del
ENST00000485870.1:n.282+2_282+4del
NM_000088.3:c.957+2_957+4del , LRG_1t1:c.957+2_957+4del	NP_000079.2:n.957+2_957+4del
XM_005257058.3:c.957+2_957+4del	XP_005257115.2:n.957+2_957+4del
XM_005257059.3:c.957+2_957+4del	XP_005257116.2:n.957+2_957+4del
XM_011524341.1:c.957+2_957+4del	XP_011522643.1:n.957+2_957+4del
XM_005257058.4:c.957+2_957+4del	XP_005257115.2:n.957+2_957+4del
XM_005257059.4:c.957+2_957+4del	XP_005257116.2:n.957+2_957+4del
NM_000088.4:c.957+2_957+4del MANE Select	NP_000079.2:n.957+2_957+4del