Canonical Allele Identifier: CA2263915166

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188498_50188499delinsCA , CM000679.2:g.50188498_50188499delinsCA	GRCh38
NC_000017.10:g.48265859_48265860delinsCA , CM000679.1:g.48265859_48265860delinsCA	GRCh37
NC_000017.9:g.45620858_45620859delinsCA	NCBI36
NG_007400.1:g.18141_18142delinsTG , LRG_1:g.18141_18142delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+31_3207+32delinsTG MANE Select	ENSP00000225964.6:n.3207+31_3207+32delins...
ENST00000225964.9:c.3207+31_3207+32delinsTG	ENSP00000225964.5:n.3207+31_3207+32delins...
ENST00000486572.1:n.56_57delinsTG
ENST00000511732.1:n.182_183delinsTG
NM_000088.3:c.3207+31_3207+32delinsTG , LRG_1t1:c.3207+31_3207+32delinsTG	NP_000079.2:n.3207+31_3207+32delinsTG
XM_005257058.3:c.2937+31_2937+32delinsTG	XP_005257115.2:n.2937+31_2937+32delinsTG
XM_005257059.3:c.2289+31_2289+32delinsTG	XP_005257116.2:n.2289+31_2289+32delinsTG
XM_011524341.1:c.3009+31_3009+32delinsTG	XP_011522643.1:n.3009+31_3009+32delinsTG
XM_005257058.4:c.2937+31_2937+32delinsTG	XP_005257115.2:n.2937+31_2937+32delinsTG
XM_005257059.4:c.2289+31_2289+32delinsTG	XP_005257116.2:n.2289+31_2289+32delinsTG
NM_000088.4:c.3207+31_3207+32delinsTG MANE Select	NP_000079.2:n.3207+31_3207+32delinsTG