Canonical Allele Identifier: CA566429159

Gene: COL11A2

Linked Data

• dbSNP Id: rs1299665445
• gnomAD v2: 6-33142424-T-TCAACCC
• gnomAD v3: 6-33174647-T-TCAACCC
• gnomAD v4: 6-33174647-T-TCAACCC
• MyVariant Identifiers: chr6:g.33142424_33142425insCAACCC (hg19) ; chr6:g.33174647_33174648insCAACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174648_33174653dup , CM000668.2:g.33174648_33174653dup	GRCh38
NC_000006.11:g.33142425_33142430dup , CM000668.1:g.33142425_33142430dup	GRCh37
NC_000006.10:g.33250403_33250408dup	NCBI36
NG_011589.1:g.22816_22821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.950-73_950-68dup
ENST00000341947.7:c.2377-73_2377-68dup MANE Select	ENSP00000339915.2:n.2377-73_2377-68dup
ENST00000341947.6:c.2377-73_2377-68dup	ENSP00000339915.2:n.2377-73_2377-68dup
ENST00000361917.5:c.2056-73_2056-68dup	ENSP00000355123.1:n.2056-73_2056-68dup
ENST00000374708.8:c.2119-73_2119-68dup	ENSP00000363840.4:n.2119-73_2119-68dup
ENST00000477772.1:n.272+2356_272+2361dup
NM_080679.2:c.2056-73_2056-68dup	NP_542410.2:n.2056-73_2056-68dup
NM_080680.2:c.2377-73_2377-68dup	NP_542411.2:n.2377-73_2377-68dup
NM_080681.2:c.2119-73_2119-68dup	NP_542412.2:n.2119-73_2119-68dup
XM_011514298.1:c.1531-73_1531-68dup	XP_011512600.1:n.1531-73_1531-68dup
XM_011514299.1:c.1663-73_1663-68dup	XP_011512601.1:n.1663-73_1663-68dup
XM_011514300.1:c.1483-73_1483-68dup	XP_011512602.1:n.1483-73_1483-68dup
XM_011514301.1:c.1420-73_1420-68dup	XP_011512603.1:n.1420-73_1420-68dup
XM_011514302.1:c.1264-73_1264-68dup	XP_011512604.1:n.1264-73_1264-68dup
XM_011514299.2:c.1663-73_1663-68dup	XP_011512601.1:n.1663-73_1663-68dup
XM_011514300.2:c.1483-73_1483-68dup	XP_011512602.1:n.1483-73_1483-68dup
XM_011514302.2:c.1264-73_1264-68dup	XP_011512604.1:n.1264-73_1264-68dup
XM_017010250.1:c.2377-73_2377-68dup	XP_016865739.1:n.2377-73_2377-68dup
XM_017010251.2:c.1195-73_1195-68dup	XP_016865740.1:n.1195-73_1195-68dup
NM_080680.3:c.2377-73_2377-68dup MANE Select	NP_542411.2:n.2377-73_2377-68dup
NM_080681.3:c.2119-73_2119-68dup	NP_542412.2:n.2119-73_2119-68dup
NM_080679.3:c.2056-73_2056-68dup	NP_542410.2:n.2056-73_2056-68dup