Canonical Allele Identifier: CA1726783434

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426586_94426595delinsGAAGGATTTT , CM000669.2:g.94426586_94426595delinsGAAGGATTTT	GRCh38
NC_000007.13:g.94055898_94055907delinsGAAGGATTTT , CM000669.1:g.94055898_94055907delinsGAAGGATTTT	GRCh37
NC_000007.12:g.93893834_93893843delinsGAAGGATTTT	NCBI36
NG_007405.1:g.37026_37035delinsGAAGGATTTT , LRG_2:g.37026_37035delinsGAAGGATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+56_3105+65delinsGAAGGATTTT MANE Select	ENSP00000297268.6:n.3105+56_3105+65delinsGAAGGATTTT
ENST00000297268.10:c.3105+56_3105+65delinsGAAGGATTTT	ENSP00000297268.6:n.3105+56_3105+65delinsGAAGGATTTT
ENST00000478215.1:n.720_729delinsGAAGGATTTT
ENST00000481570.5:n.3134_3143delinsGAAGGATTTT
ENST00000488121.1:n.21+56_21+65delinsGAAGGATTTT
ENST00000620463.1:c.3099+56_3099+65delinsGAAGGATTTT	ENSP00000477719.1:n.3099+56_3099+65delinsGAAGGATTTT
NM_000089.3:c.3105+56_3105+65delinsGAAGGATTTT , LRG_2t1:c.3105+56_3105+65delinsGAAGGATTTT	NP_000080.2:n.3105+56_3105+65delinsGAAGGATTTT
NM_000089.4:c.3105+56_3105+65delinsGAAGGATTTT MANE Select	NP_000080.2:n.3105+56_3105+65delinsGAAGGATTTT