Canonical Allele Identifier: CA2809756878

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185466_50185469del , CM000679.2:g.50185466_50185469del	GRCh38
NC_000017.10:g.48262827_48262830del , CM000679.1:g.48262827_48262830del	GRCh37
NC_000017.9:g.45617826_45617829del	NCBI36
NG_007400.1:g.21176_21179del , LRG_1:g.21176_21179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*38_*41del MANE Select	ENSP00000225964.6:n.*38_*41del
ENST00000225964.9:c.*38_*41del	ENSP00000225964.5:n.*38_*41del
NM_000088.3:c.*38_*41del , LRG_1t1:c.*38_*41del	NP_000079.2:n.*38_*41del
XM_005257058.3:c.*38_*41del	XP_005257115.2:n.*38_*41del
XM_005257059.3:c.*38_*41del	XP_005257116.2:n.*38_*41del
XM_011524341.1:c.*38_*41del	XP_011522643.1:n.*38_*41del
XM_005257058.4:c.*38_*41del	XP_005257115.2:n.*38_*41del
XM_005257059.4:c.*38_*41del	XP_005257116.2:n.*38_*41del
NM_000088.4:c.*38_*41del MANE Select	NP_000079.2:n.*38_*41del