Canonical Allele Identifier: CA645548072

Gene: COL11A2

Linked Data

• COSMIC: COSM143448

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171771_33171772delinsAA , CM000668.2:g.33171771_33171772delinsAA	GRCh38
NC_000006.11:g.33139548_33139549delinsAA , CM000668.1:g.33139548_33139549delinsAA	GRCh37
NC_000006.10:g.33247526_33247527delinsAA	NCBI36
NG_011589.1:g.25697_25698delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3091_3092delinsTT MANE Select	ENSP00000339915.2:p.Pro1031Leu
ENST00000341947.6:c.3091_3092delinsTT	ENSP00000339915.2:p.Pro1031Leu
ENST00000361917.5:c.2770_2771delinsTT	ENSP00000355123.1:p.Pro924Leu
ENST00000374708.8:c.2833_2834delinsTT	ENSP00000363840.4:p.Pro945Leu
ENST00000477772.1:n.272+5237_272+5238delinsTT
NM_080679.2:c.2770_2771delinsTT	NP_542410.2:p.Pro924Leu
NM_080680.2:c.3091_3092delinsTT	NP_542411.2:p.Pro1031Leu
NM_080681.2:c.2833_2834delinsTT	NP_542412.2:p.Pro945Leu
XM_011514298.1:c.2245_2246delinsTT	XP_011512600.1:p.Pro749Leu
XM_011514299.1:c.2377_2378delinsTT	XP_011512601.1:p.Pro793Leu
XM_011514300.1:c.2197_2198delinsTT	XP_011512602.1:p.Pro733Leu
XM_011514301.1:c.2134_2135delinsTT	XP_011512603.1:p.Pro712Leu
XM_011514302.1:c.1978_1979delinsTT	XP_011512604.1:p.Pro660Leu
XM_011514299.2:c.2377_2378delinsTT	XP_011512601.1:p.Pro793Leu
XM_011514300.2:c.2197_2198delinsTT	XP_011512602.1:p.Pro733Leu
XM_011514302.2:c.1978_1979delinsTT	XP_011512604.1:p.Pro660Leu
XM_017010250.1:c.3091_3092delinsTT	XP_016865739.1:p.Pro1031Leu
XM_017010251.2:c.1909_1910delinsTT	XP_016865740.1:p.Pro637Leu
NM_080680.3:c.3091_3092delinsTT MANE Select	NP_542411.2:p.Pro1031Leu
NM_080681.3:c.2833_2834delinsTT	NP_542412.2:p.Pro945Leu
NM_080679.3:c.2770_2771delinsTT	NP_542410.2:p.Pro924Leu