Canonical Allele Identifier: CA1619890432

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164865_33164866delinsTC , CM000668.2:g.33164865_33164866delinsTC	GRCh38
NC_000006.11:g.33132642_33132643delinsTC , CM000668.1:g.33132642_33132643delinsTC	GRCh37
NC_000006.10:g.33240620_33240621delinsTC	NCBI36
NG_011589.1:g.32603_32604delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.655_656delinsGA
ENST00000341947.7:c.4849_4850delinsGA MANE Select	ENSP00000339915.2:p.Asp1617=
ENST00000341947.6:c.4849_4850delinsGA	ENSP00000339915.2:p.Asp1617=
ENST00000361917.5:c.4528_4529delinsGA	ENSP00000355123.1:p.Asp1510=
ENST00000374708.8:c.4591_4592delinsGA	ENSP00000363840.4:p.Asp1531=
ENST00000477772.1:n.639_640delinsGA
NM_080679.2:c.4528_4529delinsGA	NP_542410.2:p.Asp1510=
NM_080680.2:c.4849_4850delinsGA	NP_542411.2:p.Asp1617=
NM_080681.2:c.4591_4592delinsGA	NP_542412.2:p.Asp1531=
XM_011514298.1:c.4003_4004delinsGA	XP_011512600.1:p.Asp1335=
XM_011514299.1:c.4135_4136delinsGA	XP_011512601.1:p.Asp1379=
XM_011514300.1:c.3955_3956delinsGA	XP_011512602.1:p.Asp1319=
XM_011514301.1:c.3892_3893delinsGA	XP_011512603.1:p.Asp1298=
XM_011514302.1:c.3736_3737delinsGA	XP_011512604.1:p.Asp1246=
XM_011514299.2:c.4135_4136delinsGA	XP_011512601.1:p.Asp1379=
XM_011514300.2:c.3955_3956delinsGA	XP_011512602.1:p.Asp1319=
XM_011514302.2:c.3736_3737delinsGA	XP_011512604.1:p.Asp1246=
XM_017010250.1:c.4849_4850delinsGA	XP_016865739.1:p.Asp1617=
XM_017010251.2:c.3667_3668delinsGA	XP_016865740.1:p.Asp1223=
NM_080680.3:c.4849_4850delinsGA MANE Select	NP_542411.2:p.Asp1617=
NM_080681.3:c.4591_4592delinsGA	NP_542412.2:p.Asp1531=
NM_080679.3:c.4528_4529delinsGA	NP_542410.2:p.Asp1510=