Canonical Allele Identifier: CA984451660

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50195775-CTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACA-C
• gnomAD v4: 17-50195775-CTAAGATCAGAGACGGAGAACCCAGGACAAAGGTGTTAGTGAACGGGCTGCTCTCTTGCCACTCTGGGTCCCTTTGGTTTGGGGAACAGGGAGACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195777_50195871del , CM000679.2:g.50195777_50195871del	GRCh38
NC_000017.10:g.48273138_48273232del , CM000679.1:g.48273138_48273232del	GRCh37
NC_000017.9:g.45628137_45628231del	NCBI36
NG_007400.1:g.10770_10864del , LRG_1:g.10770_10864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+53_1057-111del MANE Select	ENSP00000225964.6:n.1056+53_1057-111del
ENST00000225964.9:c.1056+53_1057-111del	ENSP00000225964.5:n.1056+53_1057-111del
NM_000088.3:c.1056+53_1057-111del , LRG_1t1:c.1056+53_1057-111del	NP_000079.2:n.1056+53_1057-111del
XM_005257058.3:c.1056+53_1057-111del	XP_005257115.2:n.1056+53_1057-111del
XM_005257059.3:c.957+444_957+538del	XP_005257116.2:n.957+444_957+538del
XM_011524341.1:c.958-392_958-298del	XP_011522643.1:n.958-392_958-298del
XM_005257058.4:c.1056+53_1057-111del	XP_005257115.2:n.1056+53_1057-111del
XM_005257059.4:c.957+444_957+538del	XP_005257116.2:n.957+444_957+538del
NM_000088.4:c.1056+53_1057-111del MANE Select	NP_000079.2:n.1056+53_1057-111del