Canonical Allele Identifier: CA27703074

Gene: COL11A1

Linked Data

• dbSNP Id: rs916087357
• gnomAD v3: 1-102978544-TTGG-T
• gnomAD v4: 1-102978544-TTGG-T
• MyVariant Identifiers: chr1:g.103444101_103444103del (hg19) ; chr1:g.102978545_102978547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978547_102978549del , CM000663.2:g.102978547_102978549del	GRCh38
NC_000001.10:g.103444103_103444105del , CM000663.1:g.103444103_103444105del	GRCh37
NC_000001.9:g.103216691_103216693del	NCBI36
NG_008033.1:g.134950_134952del
NG_008033.2:g.134950_134952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754+161_2754+163del MANE Select	ENSP00000359114.3:n.2754+161_2754+163del
ENST00000353414.8:c.2637+161_2637+163del	ENSP00000302551.6:n.2637+161_2637+163del
ENST00000358392.6:c.2790+161_2790+163del	ENSP00000351163.2:n.2790+161_2790+163del
ENST00000370096.7:c.2754+161_2754+163del	ENSP00000359114.3:n.2754+161_2754+163del
ENST00000512756.5:c.2406+161_2406+163del	ENSP00000426533.1:n.2406+161_2406+163del
ENST00000635193.1:c.2088+161_2088+163del
NM_001190709.1:c.2637+161_2637+163del	NP_001177638.1:n.2637+161_2637+163del
NM_001854.3:c.2754+161_2754+163del	NP_001845.3:n.2754+161_2754+163del
NM_080629.2:c.2790+161_2790+163del	NP_542196.2:n.2790+161_2790+163del
NM_080630.3:c.2406+161_2406+163del	NP_542197.3:n.2406+161_2406+163del
XM_011540719.1:c.2754+161_2754+163del	XP_011539021.1:n.2754+161_2754+163del
XM_011540720.1:c.987+161_987+163del	XP_011539022.1:n.987+161_987+163del
XM_011540721.1:c.342+161_342+163del	XP_011539023.1:n.342+161_342+163del
XR_946545.1:n.3168+161_3168+163del
NR_134980.1:n.3088+161_3088+163del
XM_017000334.1:c.2907+161_2907+163del	XP_016855823.1:n.2907+161_2907+163del
XM_017000335.1:c.2901+161_2901+163del	XP_016855824.1:n.2901+161_2901+163del
XM_017000336.1:c.2907+161_2907+163del	XP_016855825.1:n.2907+161_2907+163del
XM_017000337.1:c.1305+161_1305+163del	XP_016855826.1:n.1305+161_1305+163del
NM_001854.4:c.2754+161_2754+163del MANE Select	NP_001845.3:n.2754+161_2754+163del
NM_080630.4:c.2406+161_2406+163del	NP_542197.3:n.2406+161_2406+163del
NR_134980.2:n.3114+161_3114+163del
NM_001190709.2:c.2637+161_2637+163del	NP_001177638.1:n.2637+161_2637+163del
NM_080629.3:c.2790+161_2790+163del	NP_542196.2:n.2790+161_2790+163del