Canonical Allele Identifier: CA3749966

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 681034
• ClinVar RCV Id: RCV000840865 ; RCV003948031
• dbSNP Id: rs767389906
• ExAC: 6:33132256 AGGAGAGAGAGGGCTGGCCTCAGAGGG / A
• gnomAD v2: 6-33132256-AGGAGAGAGAGGGCTGGCCTCAGAGGG-A
• gnomAD v3: 6-33164479-AGGAGAGAGAGGGCTGGCCTCAGAGGG-A
• gnomAD v4: 6-33164479-AGGAGAGAGAGGGCTGGCCTCAGAGGG-A
• MyVariant Identifiers: chr6:g.33132257_33132282del (hg19) ; chr6:g.33164480_33164505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164506_33164531del , CM000668.2:g.33164506_33164531del	GRCh38
NC_000006.11:g.33132283_33132308del , CM000668.1:g.33132283_33132308del	GRCh37
NC_000006.10:g.33240261_33240286del	NCBI36
NG_011589.1:g.32964_32989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-32_670-7del
ENST00000341947.7:c.4864-32_4864-7del MANE Select	ENSP00000339915.2:n.4864-32_4864-7del
ENST00000341947.6:c.4864-32_4864-7del	ENSP00000339915.2:n.4864-32_4864-7del
ENST00000361917.5:c.4543-32_4543-7del	ENSP00000355123.1:n.4543-32_4543-7del
ENST00000374708.8:c.4606-32_4606-7del	ENSP00000363840.4:n.4606-32_4606-7del
ENST00000477772.1:n.654-32_654-7del
NM_080679.2:c.4543-32_4543-7del	NP_542410.2:n.4543-32_4543-7del
NM_080680.2:c.4864-32_4864-7del	NP_542411.2:n.4864-32_4864-7del
NM_080681.2:c.4606-32_4606-7del	NP_542412.2:n.4606-32_4606-7del
XM_011514298.1:c.4018-32_4018-7del	XP_011512600.1:n.4018-32_4018-7del
XM_011514299.1:c.4150-32_4150-7del	XP_011512601.1:n.4150-32_4150-7del
XM_011514300.1:c.3970-32_3970-7del	XP_011512602.1:n.3970-32_3970-7del
XM_011514301.1:c.3907-32_3907-7del	XP_011512603.1:n.3907-32_3907-7del
XM_011514302.1:c.3751-32_3751-7del	XP_011512604.1:n.3751-32_3751-7del
XM_011514299.2:c.4150-32_4150-7del	XP_011512601.1:n.4150-32_4150-7del
XM_011514300.2:c.3970-32_3970-7del	XP_011512602.1:n.3970-32_3970-7del
XM_011514302.2:c.3751-32_3751-7del	XP_011512604.1:n.3751-32_3751-7del
XM_017010250.1:c.4864-32_4864-7del	XP_016865739.1:n.4864-32_4864-7del
XM_017010251.2:c.3682-32_3682-7del	XP_016865740.1:n.3682-32_3682-7del
NM_080680.3:c.4864-32_4864-7del MANE Select	NP_542411.2:n.4864-32_4864-7del
NM_080681.3:c.4606-32_4606-7del	NP_542412.2:n.4606-32_4606-7del
NM_080679.3:c.4543-32_4543-7del	NP_542410.2:n.4543-32_4543-7del