Canonical Allele Identifier: CA2678226911

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164875-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164880_33164881del , CM000668.2:g.33164880_33164881del	GRCh38
NC_000006.11:g.33132657_33132658del , CM000668.1:g.33132657_33132658del	GRCh37
NC_000006.10:g.33240635_33240636del	NCBI36
NG_011589.1:g.32592_32593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.644_645del
ENST00000341947.7:c.4838_4839del MANE Select	ENSP00000339915.2:p.Val1613AspfsTer3
ENST00000341947.6:c.4838_4839del	ENSP00000339915.2:p.Val1613AspfsTer3
ENST00000361917.5:c.4517_4518del	ENSP00000355123.1:p.Val1506AspfsTer3
ENST00000374708.8:c.4580_4581del	ENSP00000363840.4:p.Val1527AspfsTer3
ENST00000477772.1:n.628_629del
NM_080679.2:c.4517_4518del	NP_542410.2:p.Val1506AspfsTer3
NM_080680.2:c.4838_4839del	NP_542411.2:p.Val1613AspfsTer3
NM_080681.2:c.4580_4581del	NP_542412.2:p.Val1527AspfsTer3
XM_011514298.1:c.3992_3993del	XP_011512600.1:p.Val1331AspfsTer3
XM_011514299.1:c.4124_4125del	XP_011512601.1:p.Val1375AspfsTer3
XM_011514300.1:c.3944_3945del	XP_011512602.1:p.Val1315AspfsTer3
XM_011514301.1:c.3881_3882del	XP_011512603.1:p.Val1294AspfsTer3
XM_011514302.1:c.3725_3726del	XP_011512604.1:p.Val1242AspfsTer3
XM_011514299.2:c.4124_4125del	XP_011512601.1:p.Val1375AspfsTer3
XM_011514300.2:c.3944_3945del	XP_011512602.1:p.Val1315AspfsTer3
XM_011514302.2:c.3725_3726del	XP_011512604.1:p.Val1242AspfsTer3
XM_017010250.1:c.4838_4839del	XP_016865739.1:p.Val1613AspfsTer3
XM_017010251.2:c.3656_3657del	XP_016865740.1:p.Val1219AspfsTer3
NM_080680.3:c.4838_4839del MANE Select	NP_542411.2:p.Val1613AspfsTer3
NM_080681.3:c.4580_4581del	NP_542412.2:p.Val1527AspfsTer3
NM_080679.3:c.4517_4518del	NP_542410.2:p.Val1506AspfsTer3