Canonical Allele Identifier: CA137068962

Gene: COL11A2

Linked Data

• dbSNP Id: rs984766460
• gnomAD v3: 6-33174473-AAGCGAAGAGGAGG-A
• gnomAD v4: 6-33174473-AAGCGAAGAGGAGG-A
• MyVariant Identifiers: chr6:g.33142251_33142263del (hg19) ; chr6:g.33174474_33174486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174476_33174488del , CM000668.2:g.33174476_33174488del	GRCh38
NC_000006.11:g.33142253_33142265del , CM000668.1:g.33142253_33142265del	GRCh37
NC_000006.10:g.33250231_33250243del	NCBI36
NG_011589.1:g.22983_22995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1003+41_1003+53del
ENST00000341947.7:c.2430+41_2430+53del MANE Select	ENSP00000339915.2:n.2430+41_2430+53del
ENST00000341947.6:c.2430+41_2430+53del	ENSP00000339915.2:n.2430+41_2430+53del
ENST00000361917.5:c.2109+41_2109+53del	ENSP00000355123.1:n.2109+41_2109+53del
ENST00000374708.8:c.2172+41_2172+53del	ENSP00000363840.4:n.2172+41_2172+53del
ENST00000477772.1:n.272+2523_272+2535del
NM_080679.2:c.2109+41_2109+53del	NP_542410.2:n.2109+41_2109+53del
NM_080680.2:c.2430+41_2430+53del	NP_542411.2:n.2430+41_2430+53del
NM_080681.2:c.2172+41_2172+53del	NP_542412.2:n.2172+41_2172+53del
XM_011514298.1:c.1584+41_1584+53del	XP_011512600.1:n.1584+41_1584+53del
XM_011514299.1:c.1716+41_1716+53del	XP_011512601.1:n.1716+41_1716+53del
XM_011514300.1:c.1536+41_1536+53del	XP_011512602.1:n.1536+41_1536+53del
XM_011514301.1:c.1473+41_1473+53del	XP_011512603.1:n.1473+41_1473+53del
XM_011514302.1:c.1317+41_1317+53del	XP_011512604.1:n.1317+41_1317+53del
XM_011514299.2:c.1716+41_1716+53del	XP_011512601.1:n.1716+41_1716+53del
XM_011514300.2:c.1536+41_1536+53del	XP_011512602.1:n.1536+41_1536+53del
XM_011514302.2:c.1317+41_1317+53del	XP_011512604.1:n.1317+41_1317+53del
XM_017010250.1:c.2430+41_2430+53del	XP_016865739.1:n.2430+41_2430+53del
XM_017010251.2:c.1248+41_1248+53del	XP_016865740.1:n.1248+41_1248+53del
NM_080680.3:c.2430+41_2430+53del MANE Select	NP_542411.2:n.2430+41_2430+53del
NM_080681.3:c.2172+41_2172+53del	NP_542412.2:n.2172+41_2172+53del
NM_080679.3:c.2109+41_2109+53del	NP_542410.2:n.2109+41_2109+53del