Canonical Allele Identifier: CA2809757621

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188397_50188398insTTTTTT , CM000679.2:g.50188397_50188398insTTTTTT	GRCh38
NC_000017.10:g.48265758_48265759insTTTTTT , CM000679.1:g.48265758_48265759insTTTTTT	GRCh37
NC_000017.9:g.45620757_45620758insTTTTTT	NCBI36
NG_007400.1:g.18242_18243insAAAAAA , LRG_1:g.18242_18243insAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+132_3207+133insAAAAAA MANE Select	ENSP00000225964.6:n.3207+132_3207+133insAAAAAA
ENST00000225964.9:c.3207+132_3207+133insAAAAAA	ENSP00000225964.5:n.3207+132_3207+133insAAAAAA
ENST00000486572.1:n.157_158insAAAAAA
ENST00000511732.1:n.283_284insAAAAAA
NM_000088.3:c.3207+132_3207+133insAAAAAA , LRG_1t1:c.3207+132_3207+133insAAAAAA	NP_000079.2:n.3207+132_3207+133insAAAAAA
XM_005257058.3:c.2937+132_2937+133insAAAAAA	XP_005257115.2:n.2937+132_2937+133insAAAAAA
XM_005257059.3:c.2289+132_2289+133insAAAAAA	XP_005257116.2:n.2289+132_2289+133insAAAAAA
XM_011524341.1:c.3009+132_3009+133insAAAAAA	XP_011522643.1:n.3009+132_3009+133insAAAAAA
XM_005257058.4:c.2937+132_2937+133insAAAAAA	XP_005257115.2:n.2937+132_2937+133insAAAAAA
XM_005257059.4:c.2289+132_2289+133insAAAAAA	XP_005257116.2:n.2289+132_2289+133insAAAAAA
NM_000088.4:c.3207+132_3207+133insAAAAAA MANE Select	NP_000079.2:n.3207+132_3207+133insAAAAAA