Canonical Allele Identifier: CA2263917393

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193159_50193163delinsCTGTT , CM000679.2:g.50193159_50193163delinsCTGTT	GRCh38
NC_000017.10:g.48270520_48270524delinsCTGTT , CM000679.1:g.48270520_48270524delinsCTGTT	GRCh37
NC_000017.9:g.45625519_45625523delinsCTGTT	NCBI36
NG_007400.1:g.13477_13481delinsAACAG , LRG_1:g.13477_13481delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-116_1768-112delinsAACAG MANE Select	ENSP00000225964.6:n.1768-116_1768-112delinsAACAG
ENST00000225964.9:c.1768-116_1768-112delinsAACAG	ENSP00000225964.5:n.1768-116_1768-112delinsAACAG
ENST00000476387.1:n.117-116_117-112delinsAACAG
NM_000088.3:c.1768-116_1768-112delinsAACAG , LRG_1t1:c.1768-116_1768-112delinsAACAG	NP_000079.2:n.1768-116_1768-112delinsAACAG
XM_005257058.3:c.1768-116_1768-112delinsAACAG	XP_005257115.2:n.1768-116_1768-112delinsAACAG
XM_005257059.3:c.958-470_958-466delinsAACAG	XP_005257116.2:n.958-470_958-466delinsAACAG
XM_011524341.1:c.1570-116_1570-112delinsAACAG	XP_011522643.1:n.1570-116_1570-112delinsAACAG
XM_005257058.4:c.1768-116_1768-112delinsAACAG	XP_005257115.2:n.1768-116_1768-112delinsAACAG
XM_005257059.4:c.958-470_958-466delinsAACAG	XP_005257116.2:n.958-470_958-466delinsAACAG
NM_000088.4:c.1768-116_1768-112delinsAACAG MANE Select	NP_000079.2:n.1768-116_1768-112delinsAACAG