Canonical Allele Identifier: CA2678226380

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2868772
• ClinVar RCV Id: RCV003698154
• gnomAD v4: 6-33164480-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164488_33164489del , CM000668.2:g.33164488_33164489del	GRCh38
NC_000006.11:g.33132265_33132266del , CM000668.1:g.33132265_33132266del	GRCh37
NC_000006.10:g.33240243_33240244del	NCBI36
NG_011589.1:g.32987_32988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-9_670-8del
ENST00000341947.7:c.4864-9_4864-8del MANE Select	ENSP00000339915.2:n.4864-9_4864-8del
ENST00000341947.6:c.4864-9_4864-8del	ENSP00000339915.2:n.4864-9_4864-8del
ENST00000361917.5:c.4543-9_4543-8del	ENSP00000355123.1:n.4543-9_4543-8del
ENST00000374708.8:c.4606-9_4606-8del	ENSP00000363840.4:n.4606-9_4606-8del
ENST00000477772.1:n.654-9_654-8del
NM_080679.2:c.4543-9_4543-8del	NP_542410.2:n.4543-9_4543-8del
NM_080680.2:c.4864-9_4864-8del	NP_542411.2:n.4864-9_4864-8del
NM_080681.2:c.4606-9_4606-8del	NP_542412.2:n.4606-9_4606-8del
XM_011514298.1:c.4018-9_4018-8del	XP_011512600.1:n.4018-9_4018-8del
XM_011514299.1:c.4150-9_4150-8del	XP_011512601.1:n.4150-9_4150-8del
XM_011514300.1:c.3970-9_3970-8del	XP_011512602.1:n.3970-9_3970-8del
XM_011514301.1:c.3907-9_3907-8del	XP_011512603.1:n.3907-9_3907-8del
XM_011514302.1:c.3751-9_3751-8del	XP_011512604.1:n.3751-9_3751-8del
XM_011514299.2:c.4150-9_4150-8del	XP_011512601.1:n.4150-9_4150-8del
XM_011514300.2:c.3970-9_3970-8del	XP_011512602.1:n.3970-9_3970-8del
XM_011514302.2:c.3751-9_3751-8del	XP_011512604.1:n.3751-9_3751-8del
XM_017010250.1:c.4864-9_4864-8del	XP_016865739.1:n.4864-9_4864-8del
XM_017010251.2:c.3682-9_3682-8del	XP_016865740.1:n.3682-9_3682-8del
NM_080680.3:c.4864-9_4864-8del MANE Select	NP_542411.2:n.4864-9_4864-8del
NM_080681.3:c.4606-9_4606-8del	NP_542412.2:n.4606-9_4606-8del
NM_080679.3:c.4543-9_4543-8del	NP_542410.2:n.4543-9_4543-8del