Canonical Allele Identifier: CA2263918221

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194517_50194529delinsGAAGAAGATGCCC , CM000679.2:g.50194517_50194529delinsGAAGAAGATGCCC	GRCh38
NC_000017.10:g.48271878_48271890delinsGAAGAAGATGCCC , CM000679.1:g.48271878_48271890delinsGAAGAAGATGCCC	GRCh37
NC_000017.9:g.45626877_45626889delinsGAAGAAGATGCCC	NCBI36
NG_007400.1:g.12111_12123delinsGGGCATCTTCTTC , LRG_1:g.12111_12123delinsGGGCATCTTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+44_1515+56delinsGGGCATCTTCTTC MANE Select	ENSP00000225964.6:n.1515+44_1515+56delinsGGGCATCTTCTTC
ENST00000225964.9:c.1515+44_1515+56delinsGGGCATCTTCTTC	ENSP00000225964.5:n.1515+44_1515+56delinsGGGCATCTTCTTC
ENST00000471344.1:n.459+44_459+56delinsGGGCATCTTCTTC
NM_000088.3:c.1515+44_1515+56delinsGGGCATCTTCTTC , LRG_1t1:c.1515+44_1515+56delinsGGGCATCTTCTTC	NP_000079.2:n.1515+44_1515+56delinsGGGCATCTTCTTC
XM_005257058.3:c.1515+44_1515+56delinsGGGCATCTTCTTC	XP_005257115.2:n.1515+44_1515+56delinsGGGCATCTTCTTC
XM_005257059.3:c.957+1785_957+1797delinsGGGCATCTTCTTC	XP_005257116.2:n.957+1785_957+1797delinsGGGCATCTTCTTC
XM_011524341.1:c.1317+44_1317+56delinsGGGCATCTTCTTC	XP_011522643.1:n.1317+44_1317+56delinsGGGCATCTTCTTC
XM_005257058.4:c.1515+44_1515+56delinsGGGCATCTTCTTC	XP_005257115.2:n.1515+44_1515+56delinsGGGCATCTTCTTC
XM_005257059.4:c.957+1785_957+1797delinsGGGCATCTTCTTC	XP_005257116.2:n.957+1785_957+1797delinsGGGCATCTTCTTC
NM_000088.4:c.1515+44_1515+56delinsGGGCATCTTCTTC MANE Select	NP_000079.2:n.1515+44_1515+56delinsGGGCATCTTCTTC