Canonical Allele Identifier: CA974352

Gene: COL11A1

Linked Data

• dbSNP Id: rs764495952
• ExAC: 1:103444666 A / AAAGAC
• gnomAD v2: 1-103444666-A-AAAGAC
• gnomAD v4: 1-102979110-A-AAAGAC
• MyVariant Identifiers: chr1:g.103444666_103444667insAAGAC (hg19) ; chr1:g.102979110_102979111insAAGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979112_102979116dup , CM000663.2:g.102979112_102979116dup	GRCh38
NC_000001.10:g.103444668_103444672dup , CM000663.1:g.103444668_103444672dup	GRCh37
NC_000001.9:g.103217256_103217260dup	NCBI36
NG_008033.1:g.134382_134386dup
NG_008033.2:g.134382_134386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-11_2611-7dup MANE Select	ENSP00000359114.3:n.2611-11_2611-7dup
ENST00000353414.8:c.2494-11_2494-7dup	ENSP00000302551.6:n.2494-11_2494-7dup
ENST00000358392.6:c.2647-11_2647-7dup	ENSP00000351163.2:n.2647-11_2647-7dup
ENST00000370096.7:c.2611-11_2611-7dup	ENSP00000359114.3:n.2611-11_2611-7dup
ENST00000512756.5:c.2263-11_2263-7dup	ENSP00000426533.1:n.2263-11_2263-7dup
ENST00000635193.1:c.1945-11_1945-7dup
NM_001190709.1:c.2494-11_2494-7dup	NP_001177638.1:n.2494-11_2494-7dup
NM_001854.3:c.2611-11_2611-7dup	NP_001845.3:n.2611-11_2611-7dup
NM_080629.2:c.2647-11_2647-7dup	NP_542196.2:n.2647-11_2647-7dup
NM_080630.3:c.2263-11_2263-7dup	NP_542197.3:n.2263-11_2263-7dup
XM_011540719.1:c.2611-11_2611-7dup	XP_011539021.1:n.2611-11_2611-7dup
XM_011540720.1:c.844-11_844-7dup	XP_011539022.1:n.844-11_844-7dup
XM_011540721.1:c.199-11_199-7dup	XP_011539023.1:n.199-11_199-7dup
XR_946545.1:n.3025-11_3025-7dup
NR_134980.1:n.2945-11_2945-7dup
XM_017000334.1:c.2764-11_2764-7dup	XP_016855823.1:n.2764-11_2764-7dup
XM_017000335.1:c.2758-11_2758-7dup	XP_016855824.1:n.2758-11_2758-7dup
XM_017000336.1:c.2764-11_2764-7dup	XP_016855825.1:n.2764-11_2764-7dup
XM_017000337.1:c.1162-11_1162-7dup	XP_016855826.1:n.1162-11_1162-7dup
NM_001854.4:c.2611-11_2611-7dup MANE Select	NP_001845.3:n.2611-11_2611-7dup
NM_080630.4:c.2263-11_2263-7dup	NP_542197.3:n.2263-11_2263-7dup
NR_134980.2:n.2971-11_2971-7dup
NM_001190709.2:c.2494-11_2494-7dup	NP_001177638.1:n.2494-11_2494-7dup
NM_080629.3:c.2647-11_2647-7dup	NP_542196.2:n.2647-11_2647-7dup