Canonical Allele Identifier: CA1363081451

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572520_48572525delinsCAGGGA , CM000665.2:g.48572520_48572525delinsCAGGGA	GRCh38
NC_000003.11:g.48609953_48609958delinsCAGGGA , CM000665.1:g.48609953_48609958delinsCAGGGA	GRCh37
NC_000003.10:g.48584957_48584962delinsCAGGGA	NCBI36
NG_007065.1:g.27728_27733delinsTCCCTG , LRG_286:g.27728_27733delinsTCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6914_6919delinsTCCCTG MANE Select	ENSP00000506558.1:p.Leu2305=
ENST00000328333.12:c.6914_6919delinsTCCCTG	ENSP00000332371.8:p.Leu2305=
ENST00000487017.5:n.2831_2836delinsTCCCTG
NM_000094.3:c.6914_6919delinsTCCCTG , LRG_286t1:c.6914_6919delinsTCCCTG	NP_000085.1:p.Leu2305=
XM_011533336.1:c.6941_6946delinsTCCCTG	XP_011531638.1:p.Leu2314=
XM_011533337.1:c.6914_6919delinsTCCCTG	XP_011531639.1:p.Leu2305=
XM_011533338.1:c.6941_6946delinsTCCCTG	XP_011531640.1:p.Leu2314=
XM_011533339.1:c.6941_6946delinsTCCCTG	XP_011531641.1:p.Leu2314=
XM_011533340.1:c.6941_6946delinsTCCCTG	XP_011531642.1:p.Leu2314=
XM_011533341.1:c.6941_6946delinsTCCCTG	XP_011531643.1:p.Leu2314=
XM_011533342.1:c.6941_6946delinsTCCCTG	XP_011531644.1:p.Leu2314=
XR_940369.1:n.6977_6982delinsTCCCTG
XR_940370.1:n.6977_6982delinsTCCCTG
XR_940371.1:n.6977_6982delinsTCCCTG
XR_940372.1:n.6977_6982delinsTCCCTG
XR_940373.1:n.6977_6982delinsTCCCTG
XR_940374.1:n.6987_6992delinsTCCCTG
XM_017005688.1:c.6914_6919delinsTCCCTG	XP_016861177.1:p.Leu2305=
XM_017005689.1:c.6914_6919delinsTCCCTG	XP_016861178.1:p.Leu2305=
XM_017005690.1:c.6914_6919delinsTCCCTG	XP_016861179.1:p.Leu2305=
XM_017005691.1:c.6914_6919delinsTCCCTG	XP_016861180.1:p.Leu2305=
XM_017005692.1:c.6914_6919delinsTCCCTG	XP_016861181.1:p.Leu2305=
XR_001740003.1:n.6950_6955delinsTCCCTG
XR_001740004.1:n.6950_6955delinsTCCCTG
XR_001740005.1:n.6950_6955delinsTCCCTG
XR_001740006.1:n.6950_6955delinsTCCCTG
XR_001740007.1:n.6950_6955delinsTCCCTG
XR_001740008.1:n.6960_6965delinsTCCCTG
NM_000094.4:c.6914_6919delinsTCCCTG MANE Select	NP_000085.1:p.Leu2305=