Canonical Allele Identifier: CA2610801005

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104057070-GGGCACCAGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104057074_104057084del , CM000672.2:g.104057074_104057084del	GRCh38
NC_000010.10:g.105816832_105816842del , CM000672.1:g.105816832_105816842del	GRCh37
NC_000010.9:g.105806822_105806832del	NCBI36
NG_007069.1:g.33800_33810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.1359_1369del	ENSP00000358748.3:p.Ala454LeufsTer?
ENST00000648076.2:c.1359_1369del MANE Select	ENSP00000497653.1:p.Ala454LeufsTer?
ENST00000650263.1:c.1311_1321del	ENSP00000497850.1:p.Ala438LeufsTer?
ENST00000353479.9:c.1359_1369del	ENSP00000340937.5:p.Ala454LeufsTer?
ENST00000369733.7:c.1359_1369del	ENSP00000358748.3:p.Ala454LeufsTer?
NM_000494.3:c.1359_1369del	NP_000485.3:p.Ala454LeufsTer?
NM_000494.4:c.1359_1369del MANE Select	NP_000485.3:p.Ala454LeufsTer?