Canonical Allele Identifier: CA2638676557

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196078-TCCCATTGTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196079_50196088del , CM000679.2:g.50196079_50196088del	GRCh38
NC_000017.10:g.48273440_48273449del , CM000679.1:g.48273440_48273449del	GRCh37
NC_000017.9:g.45628439_45628448del	NCBI36
NG_007400.1:g.10552_10561del , LRG_1:g.10552_10561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1002+67_1002+76del MANE Select	ENSP00000225964.6:n.1002+67_1002+76del
ENST00000225964.9:c.1002+67_1002+76del	ENSP00000225964.5:n.1002+67_1002+76del
ENST00000485870.1:n.394_403del
NM_000088.3:c.1002+67_1002+76del , LRG_1t1:c.1002+67_1002+76del	NP_000079.2:n.1002+67_1002+76del
XM_005257058.3:c.1002+67_1002+76del	XP_005257115.2:n.1002+67_1002+76del
XM_005257059.3:c.957+226_957+235del	XP_005257116.2:n.957+226_957+235del
XM_011524341.1:c.957+226_957+235del	XP_011522643.1:n.957+226_957+235del
XM_005257058.4:c.1002+67_1002+76del	XP_005257115.2:n.1002+67_1002+76del
XM_005257059.4:c.957+226_957+235del	XP_005257116.2:n.957+226_957+235del
NM_000088.4:c.1002+67_1002+76del MANE Select	NP_000079.2:n.1002+67_1002+76del