Canonical Allele Identifier: CA1185271839

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978566_102978570delinsAAAAT , CM000663.2:g.102978566_102978570delinsAAAAT	GRCh38
NC_000001.10:g.103444122_103444126delinsAAAAT , CM000663.1:g.103444122_103444126delinsAAAAT	GRCh37
NC_000001.9:g.103216710_103216714delinsAAAAT	NCBI36
NG_008033.1:g.134927_134931delinsATTTT
NG_008033.2:g.134927_134931delinsATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754+138_2754+142delinsATTTT MANE Select	ENSP00000359114.3:n.2754+138_2754+142delinsATTTT
ENST00000353414.8:c.2637+138_2637+142delinsATTTT	ENSP00000302551.6:n.2637+138_2637+142delinsATTTT
ENST00000358392.6:c.2790+138_2790+142delinsATTTT	ENSP00000351163.2:n.2790+138_2790+142delinsATTTT
ENST00000370096.7:c.2754+138_2754+142delinsATTTT	ENSP00000359114.3:n.2754+138_2754+142delinsATTTT
ENST00000512756.5:c.2406+138_2406+142delinsATTTT	ENSP00000426533.1:n.2406+138_2406+142delinsATTTT
ENST00000635193.1:c.2088+138_2088+142delinsATTTT
NM_001190709.1:c.2637+138_2637+142delinsATTTT	NP_001177638.1:n.2637+138_2637+142delinsATTTT
NM_001854.3:c.2754+138_2754+142delinsATTTT	NP_001845.3:n.2754+138_2754+142delinsATTTT
NM_080629.2:c.2790+138_2790+142delinsATTTT	NP_542196.2:n.2790+138_2790+142delinsATTTT
NM_080630.3:c.2406+138_2406+142delinsATTTT	NP_542197.3:n.2406+138_2406+142delinsATTTT
XM_011540719.1:c.2754+138_2754+142delinsATTTT	XP_011539021.1:n.2754+138_2754+142delinsATTTT
XM_011540720.1:c.987+138_987+142delinsATTTT	XP_011539022.1:n.987+138_987+142delinsATTTT
XM_011540721.1:c.342+138_342+142delinsATTTT	XP_011539023.1:n.342+138_342+142delinsATTTT
XR_946545.1:n.3168+138_3168+142delinsATTTT
NR_134980.1:n.3088+138_3088+142delinsATTTT
XM_017000334.1:c.2907+138_2907+142delinsATTTT	XP_016855823.1:n.2907+138_2907+142delinsATTTT
XM_017000335.1:c.2901+138_2901+142delinsATTTT	XP_016855824.1:n.2901+138_2901+142delinsATTTT
XM_017000336.1:c.2907+138_2907+142delinsATTTT	XP_016855825.1:n.2907+138_2907+142delinsATTTT
XM_017000337.1:c.1305+138_1305+142delinsATTTT	XP_016855826.1:n.1305+138_1305+142delinsATTTT
NM_001854.4:c.2754+138_2754+142delinsATTTT MANE Select	NP_001845.3:n.2754+138_2754+142delinsATTTT
NM_080630.4:c.2406+138_2406+142delinsATTTT	NP_542197.3:n.2406+138_2406+142delinsATTTT
NR_134980.2:n.3114+138_3114+142delinsATTTT
NM_001190709.2:c.2637+138_2637+142delinsATTTT	NP_001177638.1:n.2637+138_2637+142delinsATTTT
NM_080629.3:c.2790+138_2790+142delinsATTTT	NP_542196.2:n.2790+138_2790+142delinsATTTT