Canonical Allele Identifier: CA2263917330

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192545_50192557delinsGGGGAAGAAGGGA , CM000679.2:g.50192545_50192557delinsGGGGAAGAAGGGA	GRCh38
NC_000017.10:g.48269906_48269918delinsGGGGAAGAAGGGA , CM000679.1:g.48269906_48269918delinsGGGGAAGAAGGGA	GRCh37
NC_000017.9:g.45624905_45624917delinsGGGGAAGAAGGGA	NCBI36
NG_007400.1:g.14083_14095delinsTCCCTTCTTCCCC , LRG_1:g.14083_14095delinsTCCCTTCTTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1930-29_1930-17delinsTCCCTTCTTCCCC MANE Select	ENSP00000225964.6:n.1930-29_1930-17delinsTCCCTTCTTCCCC
ENST00000225964.9:c.1930-29_1930-17delinsTCCCTTCTTCCCC	ENSP00000225964.5:n.1930-29_1930-17delinsTCCCTTCTTCCCC
ENST00000476387.1:n.279-29_279-17delinsTCCCTTCTTCCCC
NM_000088.3:c.1930-29_1930-17delinsTCCCTTCTTCCCC , LRG_1t1:c.1930-29_1930-17delinsTCCCTTCTTCCCC	NP_000079.2:n.1930-29_1930-17delinsTCCCTTCTTCCCC
XM_005257058.3:c.1930-29_1930-17delinsTCCCTTCTTCCCC	XP_005257115.2:n.1930-29_1930-17delinsTCCCTTCTTCCCC
XM_005257059.3:c.1012-29_1012-17delinsTCCCTTCTTCCCC	XP_005257116.2:n.1012-29_1012-17delinsTCCCTTCTTCCCC
XM_011524341.1:c.1732-29_1732-17delinsTCCCTTCTTCCCC	XP_011522643.1:n.1732-29_1732-17delinsTCCCTTCTTCCCC
XM_005257058.4:c.1930-29_1930-17delinsTCCCTTCTTCCCC	XP_005257115.2:n.1930-29_1930-17delinsTCCCTTCTTCCCC
XM_005257059.4:c.1012-29_1012-17delinsTCCCTTCTTCCCC	XP_005257116.2:n.1012-29_1012-17delinsTCCCTTCTTCCCC
NM_000088.4:c.1930-29_1930-17delinsTCCCTTCTTCCCC MANE Select	NP_000079.2:n.1930-29_1930-17delinsTCCCTTCTTCCCC