Canonical Allele Identifier: CA524900429

Gene: COL11A1

Linked Data

• dbSNP Id: rs1372607209
• gnomAD v2: 1-103459394-CATATT-C
• gnomAD v3: 1-102993838-CATATT-C
• gnomAD v4: 1-102993838-CATATT-C
• MyVariant Identifiers: chr1:g.103459395_103459399del (hg19) ; chr1:g.102993839_102993843del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102993842_102993846del , CM000663.2:g.102993842_102993846del	GRCh38
NC_000001.10:g.103459398_103459402del , CM000663.1:g.103459398_103459402del	GRCh37
NC_000001.9:g.103231986_103231990del	NCBI36
NG_008033.1:g.119654_119658del
NG_008033.2:g.119654_119658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2340+2021_2340+2025del MANE Select	ENSP00000359114.3:n.2340+2021_2340+2025del
ENST00000353414.8:c.2223+2021_2223+2025del	ENSP00000302551.6:n.2223+2021_2223+2025del
ENST00000358392.6:c.2376+2021_2376+2025del	ENSP00000351163.2:n.2376+2021_2376+2025del
ENST00000370096.7:c.2340+2021_2340+2025del	ENSP00000359114.3:n.2340+2021_2340+2025del
ENST00000512756.5:c.1992+2021_1992+2025del	ENSP00000426533.1:n.1992+2021_1992+2025del
ENST00000635193.1:c.1658+2021_1658+2025del
NM_001190709.1:c.2223+2021_2223+2025del	NP_001177638.1:n.2223+2021_2223+2025del
NM_001854.3:c.2340+2021_2340+2025del	NP_001845.3:n.2340+2021_2340+2025del
NM_080629.2:c.2376+2021_2376+2025del	NP_542196.2:n.2376+2021_2376+2025del
NM_080630.3:c.1992+2021_1992+2025del	NP_542197.3:n.1992+2021_1992+2025del
XM_011540719.1:c.2340+2021_2340+2025del	XP_011539021.1:n.2340+2021_2340+2025del
XM_011540720.1:c.573+2021_573+2025del	XP_011539022.1:n.573+2021_573+2025del
XM_011540721.1:c.-89+2021_-89+2025del	XP_011539023.1:n.-89+2021_-89+2025del
XR_946545.1:n.2738+2021_2738+2025del
NR_134980.1:n.2658+2021_2658+2025del
XM_017000334.1:c.2493+2021_2493+2025del	XP_016855823.1:n.2493+2021_2493+2025del
XM_017000335.1:c.2487+2021_2487+2025del	XP_016855824.1:n.2487+2021_2487+2025del
XM_017000336.1:c.2493+2021_2493+2025del	XP_016855825.1:n.2493+2021_2493+2025del
XM_017000337.1:c.891+2021_891+2025del	XP_016855826.1:n.891+2021_891+2025del
NM_001854.4:c.2340+2021_2340+2025del MANE Select	NP_001845.3:n.2340+2021_2340+2025del
NM_080630.4:c.1992+2021_1992+2025del	NP_542197.3:n.1992+2021_1992+2025del
NR_134980.2:n.2684+2021_2684+2025del
NM_001190709.2:c.2223+2021_2223+2025del	NP_001177638.1:n.2223+2021_2223+2025del
NM_080629.3:c.2376+2021_2376+2025del	NP_542196.2:n.2376+2021_2376+2025del