Canonical Allele Identifier: CA2263919463

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196852_50196855delinsTGGA , CM000679.2:g.50196852_50196855delinsTGGA	GRCh38
NC_000017.10:g.48274213_48274216delinsTGGA , CM000679.1:g.48274213_48274216delinsTGGA	GRCh37
NC_000017.9:g.45629212_45629215delinsTGGA	NCBI36
NG_007400.1:g.9785_9788delinsTCCA , LRG_1:g.9785_9788delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.804+155_804+158delinsTCCA MANE Select	ENSP00000225964.6:n.804+155_804+158delinsTCCA
ENST00000225964.9:c.804+155_804+158delinsTCCA	ENSP00000225964.5:n.804+155_804+158delinsTCCA
ENST00000495677.1:n.531+155_531+158delinsTCCA
NM_000088.3:c.804+155_804+158delinsTCCA , LRG_1t1:c.804+155_804+158delinsTCCA	NP_000079.2:n.804+155_804+158delinsTCCA
XM_005257058.3:c.804+155_804+158delinsTCCA	XP_005257115.2:n.804+155_804+158delinsTCCA
XM_005257059.3:c.804+155_804+158delinsTCCA	XP_005257116.2:n.804+155_804+158delinsTCCA
XM_011524341.1:c.804+155_804+158delinsTCCA	XP_011522643.1:n.804+155_804+158delinsTCCA
XM_005257058.4:c.804+155_804+158delinsTCCA	XP_005257115.2:n.804+155_804+158delinsTCCA
XM_005257059.4:c.804+155_804+158delinsTCCA	XP_005257116.2:n.804+155_804+158delinsTCCA
NM_000088.4:c.804+155_804+158delinsTCCA MANE Select	NP_000079.2:n.804+155_804+158delinsTCCA