Canonical Allele Identifier: CA2844624940

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197064del , CM000679.2:g.50197064del	GRCh38
NC_000017.10:g.48274425del , CM000679.1:g.48274425del	GRCh37
NC_000017.9:g.45629424del	NCBI36
NG_007400.1:g.9578del , LRG_1:g.9578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.752del
ENST00000225964.9:c.752del
ENST00000495677.1:n.479del
NM_000088.3:c.752del , LRG_1t1:c.752del
XM_005257058.3:c.752del
XM_005257059.3:c.752del
XM_011524341.1:c.752del
XM_005257058.4:c.752del
XM_005257059.4:c.752del
NM_000088.4:c.752del