Canonical Allele Identifier: CA2638709515

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193181-C-CCAGCAAGAAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193182_50193183insAGCAAGAAGCAC , CM000679.2:g.50193182_50193183insAGCAAGAAGCAC	GRCh38
NC_000017.10:g.48270543_48270544insAGCAAGAAGCAC , CM000679.1:g.48270543_48270544insAGCAAGAAGCAC	GRCh37
NC_000017.9:g.45625542_45625543insAGCAAGAAGCAC	NCBI36
NG_007400.1:g.13458_13459insTGCTTCTTGCTG , LRG_1:g.13458_13459insTGCTTCTTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-135_1768-134insTGCTTCTTGCTG MANE Select	ENSP00000225964.6:n.1768-135_1768-134insTGCTTCTTGCTG
ENST00000225964.9:c.1768-135_1768-134insTGCTTCTTGCTG	ENSP00000225964.5:n.1768-135_1768-134insTGCTTCTTGCTG
ENST00000476387.1:n.117-135_117-134insTGCTTCTTGCTG
NM_000088.3:c.1768-135_1768-134insTGCTTCTTGCTG , LRG_1t1:c.1768-135_1768-134insTGCTTCTTGCTG	NP_000079.2:n.1768-135_1768-134insTGCTTCTTGCTG
XM_005257058.3:c.1768-135_1768-134insTGCTTCTTGCTG	XP_005257115.2:n.1768-135_1768-134insTGCTTCTTGCTG
XM_005257059.3:c.958-489_958-488insTGCTTCTTGCTG	XP_005257116.2:n.958-489_958-488insTGCTTCTTGCTG
XM_011524341.1:c.1570-135_1570-134insTGCTTCTTGCTG	XP_011522643.1:n.1570-135_1570-134insTGCTTCTTGCTG
XM_005257058.4:c.1768-135_1768-134insTGCTTCTTGCTG	XP_005257115.2:n.1768-135_1768-134insTGCTTCTTGCTG
XM_005257059.4:c.958-489_958-488insTGCTTCTTGCTG	XP_005257116.2:n.958-489_958-488insTGCTTCTTGCTG
NM_000088.4:c.1768-135_1768-134insTGCTTCTTGCTG MANE Select	NP_000079.2:n.1768-135_1768-134insTGCTTCTTGCTG