Canonical Allele Identifier: CA974316

Gene: COL11A1

Linked Data

• dbSNP Id: rs760985656
• ExAC: 1:103444368 GA / G
• gnomAD v2: 1-103444368-GA-G
• gnomAD v4: 1-102978812-GA-G
• MyVariant Identifiers: chr1:g.103444369del (hg19) ; chr1:g.102978813del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978820del , CM000663.2:g.102978820del	GRCh38
NC_000001.10:g.103444376del , CM000663.1:g.103444376del	GRCh37
NC_000001.9:g.103216964del	NCBI36
NG_008033.1:g.134684del
NG_008033.2:g.134684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2709+47del MANE Select	ENSP00000359114.3:n.2709+47del
ENST00000353414.8:c.2592+47del	ENSP00000302551.6:n.2592+47del
ENST00000358392.6:c.2745+47del	ENSP00000351163.2:n.2745+47del
ENST00000370096.7:c.2709+47del	ENSP00000359114.3:n.2709+47del
ENST00000512756.5:c.2361+47del	ENSP00000426533.1:n.2361+47del
ENST00000635193.1:c.2043+47del
NM_001190709.1:c.2592+47del	NP_001177638.1:n.2592+47del
NM_001854.3:c.2709+47del	NP_001845.3:n.2709+47del
NM_080629.2:c.2745+47del	NP_542196.2:n.2745+47del
NM_080630.3:c.2361+47del	NP_542197.3:n.2361+47del
XM_011540719.1:c.2709+47del	XP_011539021.1:n.2709+47del
XM_011540720.1:c.942+47del	XP_011539022.1:n.942+47del
XM_011540721.1:c.297+47del	XP_011539023.1:n.297+47del
XR_946545.1:n.3123+47del
NR_134980.1:n.3043+47del
XM_017000334.1:c.2862+47del	XP_016855823.1:n.2862+47del
XM_017000335.1:c.2856+47del	XP_016855824.1:n.2856+47del
XM_017000336.1:c.2862+47del	XP_016855825.1:n.2862+47del
XM_017000337.1:c.1260+47del	XP_016855826.1:n.1260+47del
NM_001854.4:c.2709+47del MANE Select	NP_001845.3:n.2709+47del
NM_080630.4:c.2361+47del	NP_542197.3:n.2361+47del
NR_134980.2:n.3069+47del
NM_001190709.2:c.2592+47del	NP_001177638.1:n.2592+47del
NM_080629.3:c.2745+47del	NP_542196.2:n.2745+47del