Canonical Allele Identifier: CA772783037

Gene: COL1A1

Linked Data

• dbSNP Id: rs1269674722
• gnomAD v3: 17-50188382-GT-G
• gnomAD v4: 17-50188382-GT-G
• MyVariant Identifiers: chr17:g.48265744del (hg19) ; chr17:g.50188383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188388del , CM000679.2:g.50188388del	GRCh38
NC_000017.10:g.48265749del , CM000679.1:g.48265749del	GRCh37
NC_000017.9:g.45620748del	NCBI36
NG_007400.1:g.18257del , LRG_1:g.18257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+147del MANE Select	ENSP00000225964.6:n.3207+147del
ENST00000225964.9:c.3207+147del	ENSP00000225964.5:n.3207+147del
ENST00000486572.1:n.172del
ENST00000511732.1:n.298del
NM_000088.3:c.3207+147del , LRG_1t1:c.3207+147del	NP_000079.2:n.3207+147del
XM_005257058.3:c.2937+147del	XP_005257115.2:n.2937+147del
XM_005257059.3:c.2289+147del	XP_005257116.2:n.2289+147del
XM_011524341.1:c.3009+147del	XP_011522643.1:n.3009+147del
XM_005257058.4:c.2937+147del	XP_005257115.2:n.2937+147del
XM_005257059.4:c.2289+147del	XP_005257116.2:n.2289+147del
NM_000088.4:c.3207+147del MANE Select	NP_000079.2:n.3207+147del