Canonical Allele Identifier: CA2263918797

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195560_50195564delinsCACTT , CM000679.2:g.50195560_50195564delinsCACTT	GRCh38
NC_000017.10:g.48272921_48272925delinsCACTT , CM000679.1:g.48272921_48272925delinsCACTT	GRCh37
NC_000017.9:g.45627920_45627924delinsCACTT	NCBI36
NG_007400.1:g.11076_11080delinsAAGTG , LRG_1:g.11076_11080delinsAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1155+3_1155+7delinsAAGTG MANE Select	ENSP00000225964.6:n.1155+3_1155+7delinsAAGTG
ENST00000225964.9:c.1155+3_1155+7delinsAAGTG	ENSP00000225964.5:n.1155+3_1155+7delinsAAGTG
ENST00000471344.1:n.99+3_99+7delinsAAGTG
NM_000088.3:c.1155+3_1155+7delinsAAGTG , LRG_1t1:c.1155+3_1155+7delinsAAGTG	NP_000079.2:n.1155+3_1155+7delinsAAGTG
XM_005257058.3:c.1155+3_1155+7delinsAAGTG	XP_005257115.2:n.1155+3_1155+7delinsAAGTG
XM_005257059.3:c.957+750_957+754delinsAAGTG	XP_005257116.2:n.957+750_957+754delinsAAGTG
XM_011524341.1:c.958-86_958-82delinsAAGTG	XP_011522643.1:n.958-86_958-82delinsAAGTG
XM_005257058.4:c.1155+3_1155+7delinsAAGTG	XP_005257115.2:n.1155+3_1155+7delinsAAGTG
XM_005257059.4:c.957+750_957+754delinsAAGTG	XP_005257116.2:n.957+750_957+754delinsAAGTG
NM_000088.4:c.1155+3_1155+7delinsAAGTG MANE Select	NP_000079.2:n.1155+3_1155+7delinsAAGTG