Canonical Allele Identifier: CA1619890863
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165178_33165179delinsGC , CM000668.2:g.33165178_33165179delinsGC GRCh38
NC_000006.11:g.33132955_33132956delinsGC , CM000668.1:g.33132955_33132956delinsGC GRCh37
NC_000006.10:g.33240933_33240934delinsGC NCBI36
NG_011589.1:g.32290_32291delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.557-215_557-214delinsGC
ENST00000341947.7:c.4751-215_4751-214delinsGC MANE Select ENSP00000339915.2:n.4751-215_4751-214delinsGC
ENST00000341947.6:c.4751-215_4751-214delinsGC ENSP00000339915.2:n.4751-215_4751-214delinsGC
ENST00000361917.5:c.4430-215_4430-214delinsGC ENSP00000355123.1:n.4430-215_4430-214delinsGC
ENST00000374708.8:c.4493-215_4493-214delinsGC ENSP00000363840.4:n.4493-215_4493-214delinsGC
ENST00000477772.1:n.541-215_541-214delinsGC
NM_080679.2:c.4430-215_4430-214delinsGC NP_542410.2:n.4430-215_4430-214delinsGC
NM_080680.2:c.4751-215_4751-214delinsGC NP_542411.2:n.4751-215_4751-214delinsGC
NM_080681.2:c.4493-215_4493-214delinsGC NP_542412.2:n.4493-215_4493-214delinsGC
XM_011514298.1:c.3905-215_3905-214delinsGC XP_011512600.1:n.3905-215_3905-214delinsGC
XM_011514299.1:c.4037-215_4037-214delinsGC XP_011512601.1:n.4037-215_4037-214delinsGC
XM_011514300.1:c.3857-215_3857-214delinsGC XP_011512602.1:n.3857-215_3857-214delinsGC
XM_011514301.1:c.3794-215_3794-214delinsGC XP_011512603.1:n.3794-215_3794-214delinsGC
XM_011514302.1:c.3638-215_3638-214delinsGC XP_011512604.1:n.3638-215_3638-214delinsGC
XM_011514299.2:c.4037-215_4037-214delinsGC XP_011512601.1:n.4037-215_4037-214delinsGC
XM_011514300.2:c.3857-215_3857-214delinsGC XP_011512602.1:n.3857-215_3857-214delinsGC
XM_011514302.2:c.3638-215_3638-214delinsGC XP_011512604.1:n.3638-215_3638-214delinsGC
XM_017010250.1:c.4751-215_4751-214delinsGC XP_016865739.1:n.4751-215_4751-214delinsGC
XM_017010251.2:c.3569-215_3569-214delinsGC XP_016865740.1:n.3569-215_3569-214delinsGC
NM_080680.3:c.4751-215_4751-214delinsGC MANE Select NP_542411.2:n.4751-215_4751-214delinsGC
NM_080681.3:c.4493-215_4493-214delinsGC NP_542412.2:n.4493-215_4493-214delinsGC
NM_080679.3:c.4430-215_4430-214delinsGC NP_542410.2:n.4430-215_4430-214delinsGC