Canonical Allele Identifier: CA2638708987

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188393-TAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188394_50188397del , CM000679.2:g.50188394_50188397del	GRCh38
NC_000017.10:g.48265755_48265758del , CM000679.1:g.48265755_48265758del	GRCh37
NC_000017.9:g.45620754_45620757del	NCBI36
NG_007400.1:g.18243_18246del , LRG_1:g.18243_18246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+133_3207+136del MANE Select	ENSP00000225964.6:n.3207+133_3207+136del
ENST00000225964.9:c.3207+133_3207+136del	ENSP00000225964.5:n.3207+133_3207+136del
ENST00000486572.1:n.158_161del
ENST00000511732.1:n.284_287del
NM_000088.3:c.3207+133_3207+136del , LRG_1t1:c.3207+133_3207+136del	NP_000079.2:n.3207+133_3207+136del
XM_005257058.3:c.2937+133_2937+136del	XP_005257115.2:n.2937+133_2937+136del
XM_005257059.3:c.2289+133_2289+136del	XP_005257116.2:n.2289+133_2289+136del
XM_011524341.1:c.3009+133_3009+136del	XP_011522643.1:n.3009+133_3009+136del
XM_005257058.4:c.2937+133_2937+136del	XP_005257115.2:n.2937+133_2937+136del
XM_005257059.4:c.2289+133_2289+136del	XP_005257116.2:n.2289+133_2289+136del
NM_000088.4:c.3207+133_3207+136del MANE Select	NP_000079.2:n.3207+133_3207+136del