Canonical Allele Identifier: CA2578581126
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165050del , CM000668.2:g.33165050del GRCh38
NC_000006.11:g.33132827del , CM000668.1:g.33132827del GRCh37
NC_000006.10:g.33240805del NCBI36
NG_011589.1:g.32421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.557-84del
ENST00000341947.7:c.4751-84del MANE Select ENSP00000339915.2:n.4751-84del
ENST00000341947.6:c.4751-84del ENSP00000339915.2:n.4751-84del
ENST00000361917.5:c.4430-84del ENSP00000355123.1:n.4430-84del
ENST00000374708.8:c.4493-84del ENSP00000363840.4:n.4493-84del
ENST00000477772.1:n.541-84del
NM_080679.2:c.4430-84del NP_542410.2:n.4430-84del
NM_080680.2:c.4751-84del NP_542411.2:n.4751-84del
NM_080681.2:c.4493-84del NP_542412.2:n.4493-84del
XM_011514298.1:c.3905-84del XP_011512600.1:n.3905-84del
XM_011514299.1:c.4037-84del XP_011512601.1:n.4037-84del
XM_011514300.1:c.3857-84del XP_011512602.1:n.3857-84del
XM_011514301.1:c.3794-84del XP_011512603.1:n.3794-84del
XM_011514302.1:c.3638-84del XP_011512604.1:n.3638-84del
XM_011514299.2:c.4037-84del XP_011512601.1:n.4037-84del
XM_011514300.2:c.3857-84del XP_011512602.1:n.3857-84del
XM_011514302.2:c.3638-84del XP_011512604.1:n.3638-84del
XM_017010250.1:c.4751-84del XP_016865739.1:n.4751-84del
XM_017010251.2:c.3569-84del XP_016865740.1:n.3569-84del
NM_080680.3:c.4751-84del MANE Select NP_542411.2:n.4751-84del
NM_080681.3:c.4493-84del NP_542412.2:n.4493-84del
NM_080679.3:c.4430-84del NP_542410.2:n.4430-84del