Canonical Allele Identifier: CA1619890295
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164802_33164803delinsAG , CM000668.2:g.33164802_33164803delinsAG GRCh38
NC_000006.11:g.33132579_33132580delinsAG , CM000668.1:g.33132579_33132580delinsAG GRCh37
NC_000006.10:g.33240557_33240558delinsAG NCBI36
NG_011589.1:g.32666_32667delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.669+49_669+50delinsCT
ENST00000341947.7:c.4863+49_4863+50delinsCT MANE Select ENSP00000339915.2:n.4863+49_4863+50delinsCT
ENST00000341947.6:c.4863+49_4863+50delinsCT ENSP00000339915.2:n.4863+49_4863+50delinsCT
ENST00000361917.5:c.4542+49_4542+50delinsCT ENSP00000355123.1:n.4542+49_4542+50delinsCT
ENST00000374708.8:c.4605+49_4605+50delinsCT ENSP00000363840.4:n.4605+49_4605+50delinsCT
ENST00000477772.1:n.653+49_653+50delinsCT
NM_080679.2:c.4542+49_4542+50delinsCT NP_542410.2:n.4542+49_4542+50delinsCT
NM_080680.2:c.4863+49_4863+50delinsCT NP_542411.2:n.4863+49_4863+50delinsCT
NM_080681.2:c.4605+49_4605+50delinsCT NP_542412.2:n.4605+49_4605+50delinsCT
XM_011514298.1:c.4017+49_4017+50delinsCT XP_011512600.1:n.4017+49_4017+50delinsCT
XM_011514299.1:c.4149+49_4149+50delinsCT XP_011512601.1:n.4149+49_4149+50delinsCT
XM_011514300.1:c.3969+49_3969+50delinsCT XP_011512602.1:n.3969+49_3969+50delinsCT
XM_011514301.1:c.3906+49_3906+50delinsCT XP_011512603.1:n.3906+49_3906+50delinsCT
XM_011514302.1:c.3750+49_3750+50delinsCT XP_011512604.1:n.3750+49_3750+50delinsCT
XM_011514299.2:c.4149+49_4149+50delinsCT XP_011512601.1:n.4149+49_4149+50delinsCT
XM_011514300.2:c.3969+49_3969+50delinsCT XP_011512602.1:n.3969+49_3969+50delinsCT
XM_011514302.2:c.3750+49_3750+50delinsCT XP_011512604.1:n.3750+49_3750+50delinsCT
XM_017010250.1:c.4863+49_4863+50delinsCT XP_016865739.1:n.4863+49_4863+50delinsCT
XM_017010251.2:c.3681+49_3681+50delinsCT XP_016865740.1:n.3681+49_3681+50delinsCT
NM_080680.3:c.4863+49_4863+50delinsCT MANE Select NP_542411.2:n.4863+49_4863+50delinsCT
NM_080681.3:c.4605+49_4605+50delinsCT NP_542412.2:n.4605+49_4605+50delinsCT
NM_080679.3:c.4542+49_4542+50delinsCT NP_542410.2:n.4542+49_4542+50delinsCT