Canonical Allele Identifier: CA2646804848

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978557-A-ATTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978558_102978559insTATT , CM000663.2:g.102978558_102978559insTATT	GRCh38
NC_000001.10:g.103444114_103444115insTATT , CM000663.1:g.103444114_103444115insTATT	GRCh37
NC_000001.9:g.103216702_103216703insTATT	NCBI36
NG_008033.1:g.134939_134940insATAA
NG_008033.2:g.134939_134940insATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754+150_2754+151insATAA MANE Select	ENSP00000359114.3:n.2754+150_2754+151insATAA
ENST00000353414.8:c.2637+150_2637+151insATAA	ENSP00000302551.6:n.2637+150_2637+151insATAA
ENST00000358392.6:c.2790+150_2790+151insATAA	ENSP00000351163.2:n.2790+150_2790+151insATAA
ENST00000370096.7:c.2754+150_2754+151insATAA	ENSP00000359114.3:n.2754+150_2754+151insATAA
ENST00000512756.5:c.2406+150_2406+151insATAA	ENSP00000426533.1:n.2406+150_2406+151insATAA
ENST00000635193.1:c.2088+150_2088+151insATAA
NM_001190709.1:c.2637+150_2637+151insATAA	NP_001177638.1:n.2637+150_2637+151insATAA
NM_001854.3:c.2754+150_2754+151insATAA	NP_001845.3:n.2754+150_2754+151insATAA
NM_080629.2:c.2790+150_2790+151insATAA	NP_542196.2:n.2790+150_2790+151insATAA
NM_080630.3:c.2406+150_2406+151insATAA	NP_542197.3:n.2406+150_2406+151insATAA
XM_011540719.1:c.2754+150_2754+151insATAA	XP_011539021.1:n.2754+150_2754+151insATAA
XM_011540720.1:c.987+150_987+151insATAA	XP_011539022.1:n.987+150_987+151insATAA
XM_011540721.1:c.342+150_342+151insATAA	XP_011539023.1:n.342+150_342+151insATAA
XR_946545.1:n.3168+150_3168+151insATAA
NR_134980.1:n.3088+150_3088+151insATAA
XM_017000334.1:c.2907+150_2907+151insATAA	XP_016855823.1:n.2907+150_2907+151insATAA
XM_017000335.1:c.2901+150_2901+151insATAA	XP_016855824.1:n.2901+150_2901+151insATAA
XM_017000336.1:c.2907+150_2907+151insATAA	XP_016855825.1:n.2907+150_2907+151insATAA
XM_017000337.1:c.1305+150_1305+151insATAA	XP_016855826.1:n.1305+150_1305+151insATAA
NM_001854.4:c.2754+150_2754+151insATAA MANE Select	NP_001845.3:n.2754+150_2754+151insATAA
NM_080630.4:c.2406+150_2406+151insATAA	NP_542197.3:n.2406+150_2406+151insATAA
NR_134980.2:n.3114+150_3114+151insATAA
NM_001190709.2:c.2637+150_2637+151insATAA	NP_001177638.1:n.2637+150_2637+151insATAA
NM_080629.3:c.2790+150_2790+151insATAA	NP_542196.2:n.2790+150_2790+151insATAA