Canonical Allele Identifier: CA2638704644

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50190229-TCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190232_50190236del , CM000679.2:g.50190232_50190236del	GRCh38
NC_000017.10:g.48267593_48267597del , CM000679.1:g.48267593_48267597del	GRCh37
NC_000017.9:g.45622592_45622596del	NCBI36
NG_007400.1:g.16406_16410del , LRG_1:g.16406_16410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2451+93_2451+97del MANE Select	ENSP00000225964.6:n.2451+93_2451+97del
ENST00000225964.9:c.2451+93_2451+97del	ENSP00000225964.5:n.2451+93_2451+97del
NM_000088.3:c.2451+93_2451+97del , LRG_1t1:c.2451+93_2451+97del	NP_000079.2:n.2451+93_2451+97del
XM_005257058.3:c.2451+93_2451+97del	XP_005257115.2:n.2451+93_2451+97del
XM_005257059.3:c.1533+93_1533+97del	XP_005257116.2:n.1533+93_1533+97del
XM_011524341.1:c.2253+93_2253+97del	XP_011522643.1:n.2253+93_2253+97del
XM_005257058.4:c.2451+93_2451+97del	XP_005257115.2:n.2451+93_2451+97del
XM_005257059.4:c.1533+93_1533+97del	XP_005257116.2:n.1533+93_1533+97del
NM_000088.4:c.2451+93_2451+97del MANE Select	NP_000079.2:n.2451+93_2451+97del