Canonical Allele Identifier: CA2809757586

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188122_50188123del , CM000679.2:g.50188122_50188123del	GRCh38
NC_000017.10:g.48265483_48265484del , CM000679.1:g.48265483_48265484del	GRCh37
NC_000017.9:g.45620482_45620483del	NCBI36
NG_007400.1:g.18517_18518del , LRG_1:g.18517_18518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3234_3235del MANE Select	ENSP00000225964.6:p.Gly1079ProfsTer16
ENST00000225964.9:c.3234_3235del	ENSP00000225964.5:p.Gly1079ProfsTer16
ENST00000486572.1:n.432_433del
ENST00000511732.1:n.558_559del
NM_000088.3:c.3234_3235del , LRG_1t1:c.3234_3235del	NP_000079.2:p.Gly1079ProfsTer16
XM_005257058.3:c.2964_2965del	XP_005257115.2:p.Gly989ProfsTer16
XM_005257059.3:c.2316_2317del	XP_005257116.2:p.Gly773ProfsTer16
XM_011524341.1:c.3036_3037del	XP_011522643.1:p.Gly1013ProfsTer16
XM_005257058.4:c.2964_2965del	XP_005257115.2:p.Gly989ProfsTer16
XM_005257059.4:c.2316_2317del	XP_005257116.2:p.Gly773ProfsTer16
NM_000088.4:c.3234_3235del MANE Select	NP_000079.2:p.Gly1079ProfsTer16