Canonical Allele Identifier: CA2263918241

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194549_50194569delinsCCCCCGGCCGCAAGGAGAGGT , CM000679.2:g.50194549_50194569delinsCCCCCGGCCGCAAGGAGAGGT	GRCh38
NC_000017.10:g.48271910_48271930delinsCCCCCGGCCGCAAGGAGAGGT , CM000679.1:g.48271910_48271930delinsCCCCCGGCCGCAAGGAGAGGT	GRCh37
NC_000017.9:g.45626909_45626929delinsCCCCCGGCCGCAAGGAGAGGT	NCBI36
NG_007400.1:g.12071_12091delinsACCTCTCCTTGCGGCCGGGGG , LRG_1:g.12071_12091delinsACCTCTCCTTGCGGCCGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG MANE Select	ENSP00000225964.6:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG...
ENST00000225964.9:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG	ENSP00000225964.5:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG...
ENST00000471344.1:n.459+4_459+24delinsACCTCTCCTTGCGGCCGGGGG
NM_000088.3:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG , LRG_1t1:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG	NP_000079.2:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG
XM_005257058.3:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG	XP_005257115.2:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG
XM_005257059.3:c.957+1745_957+1765delinsACCTCTCCTTGCGGCCGGGGG	XP_005257116.2:n.957+1745_957+1765delinsACCTCTCCTTGCGGCCGGGGG...
XM_011524341.1:c.1317+4_1317+24delinsACCTCTCCTTGCGGCCGGGGG	XP_011522643.1:n.1317+4_1317+24delinsACCTCTCCTTGCGGCCGGGGG
XM_005257058.4:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG	XP_005257115.2:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG
XM_005257059.4:c.957+1745_957+1765delinsACCTCTCCTTGCGGCCGGGGG	XP_005257116.2:n.957+1745_957+1765delinsACCTCTCCTTGCGGCCGGGGG...
NM_000088.4:c.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG MANE Select	NP_000079.2:n.1515+4_1515+24delinsACCTCTCCTTGCGGCCGGGGG