Canonical Allele Identifier: CA1005160014

Gene: COL11A1

Linked Data

• dbSNP Id: rs1659348874
• gnomAD v3: 1-102946899-GCCCTGGTAAA-G
• gnomAD v4: 1-102946899-GCCCTGGTAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946902_102946911del , CM000663.2:g.102946902_102946911del	GRCh38
NC_000001.10:g.103412458_103412467del , CM000663.1:g.103412458_103412467del	GRCh37
NC_000001.9:g.103185046_103185055del	NCBI36
NG_008033.1:g.166588_166597del
NG_008033.2:g.166588_166597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3216_3225del MANE Select	ENSP00000359114.3:p.Leu1073AlafsTer?
ENST00000353414.8:c.3099_3108del	ENSP00000302551.6:p.Leu1034AlafsTer?
ENST00000358392.6:c.3252_3261del	ENSP00000351163.2:p.Leu1085AlafsTer?
ENST00000370096.7:c.3216_3225del	ENSP00000359114.3:p.Leu1073AlafsTer?
ENST00000512756.5:c.2868_2877del	ENSP00000426533.1:p.Leu957AlafsTer?
ENST00000635193.1:c.2550_2559del
NM_001190709.1:c.3099_3108del	NP_001177638.1:p.Leu1034AlafsTer?
NM_001854.3:c.3216_3225del	NP_001845.3:p.Leu1073AlafsTer?
NM_080629.2:c.3252_3261del	NP_542196.2:p.Leu1085AlafsTer?
NM_080630.3:c.2868_2877del	NP_542197.3:p.Leu957AlafsTer?
XM_011540719.1:c.3216_3225del	XP_011539021.1:p.Leu1073AlafsTer?
XM_011540720.1:c.1449_1458del	XP_011539022.1:p.Leu484AlafsTer?
XM_011540721.1:c.804_813del	XP_011539023.1:p.Leu269AlafsTer?
NR_134980.1:n.3550_3559del
XM_017000334.1:c.3369_3378del	XP_016855823.1:p.Leu1124AlafsTer?
XM_017000335.1:c.3363_3372del	XP_016855824.1:p.Leu1122AlafsTer?
XM_017000336.1:c.3369_3378del	XP_016855825.1:p.Leu1124AlafsTer?
XM_017000337.1:c.1767_1776del	XP_016855826.1:p.Leu590AlafsTer?
NM_001854.4:c.3216_3225del MANE Select	NP_001845.3:p.Leu1073AlafsTer?
NM_080630.4:c.2868_2877del	NP_542197.3:p.Leu957AlafsTer?
NR_134980.2:n.3576_3585del
NM_001190709.2:c.3099_3108del	NP_001177638.1:p.Leu1034AlafsTer?
NM_080629.3:c.3252_3261del	NP_542196.2:p.Leu1085AlafsTer?