Canonical Allele Identifier: CA2263917394

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907251456
• gnomAD v4: 17-50193159-CTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193162_50193165del , CM000679.2:g.50193162_50193165del	GRCh38
NC_000017.10:g.48270523_48270526del , CM000679.1:g.48270523_48270526del	GRCh37
NC_000017.9:g.45625522_45625525del	NCBI36
NG_007400.1:g.13477_13480del , LRG_1:g.13477_13480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-116_1768-113del MANE Select	ENSP00000225964.6:n.1768-116_1768-113del
ENST00000225964.9:c.1768-116_1768-113del	ENSP00000225964.5:n.1768-116_1768-113del
ENST00000476387.1:n.117-116_117-113del
NM_000088.3:c.1768-116_1768-113del , LRG_1t1:c.1768-116_1768-113del	NP_000079.2:n.1768-116_1768-113del
XM_005257058.3:c.1768-116_1768-113del	XP_005257115.2:n.1768-116_1768-113del
XM_005257059.3:c.958-470_958-467del	XP_005257116.2:n.958-470_958-467del
XM_011524341.1:c.1570-116_1570-113del	XP_011522643.1:n.1570-116_1570-113del
XM_005257058.4:c.1768-116_1768-113del	XP_005257115.2:n.1768-116_1768-113del
XM_005257059.4:c.958-470_958-467del	XP_005257116.2:n.958-470_958-467del
NM_000088.4:c.1768-116_1768-113del MANE Select	NP_000079.2:n.1768-116_1768-113del