Canonical Allele Identifier: CA2840306030

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188460del , CM000679.2:g.50188460del	GRCh38
NC_000017.10:g.48265821del , CM000679.1:g.48265821del	GRCh37
NC_000017.9:g.45620820del	NCBI36
NG_007400.1:g.18183del , LRG_1:g.18183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+73del MANE Select	ENSP00000225964.6:n.3207+73del
ENST00000225964.9:c.3207+73del	ENSP00000225964.5:n.3207+73del
ENST00000486572.1:n.98del
ENST00000511732.1:n.224del
NM_000088.3:c.3207+73del , LRG_1t1:c.3207+73del	NP_000079.2:n.3207+73del
XM_005257058.3:c.2937+73del	XP_005257115.2:n.2937+73del
XM_005257059.3:c.2289+73del	XP_005257116.2:n.2289+73del
XM_011524341.1:c.3009+73del	XP_011522643.1:n.3009+73del
XM_005257058.4:c.2937+73del	XP_005257115.2:n.2937+73del
XM_005257059.4:c.2289+73del	XP_005257116.2:n.2289+73del
NM_000088.4:c.3207+73del MANE Select	NP_000079.2:n.3207+73del