Canonical Allele Identifier: CA596111107
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1454450765
gnomAD v2: 10-105793958-CAGAT-C
gnomAD v3: 10-104034200-CAGAT-C
gnomAD v4: 10-104034200-CAGAT-C
MyVariant Identifiers: chr10:g.105793959_105793962del (hg19) chr10:g.104034201_104034204del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034201_104034204del , CM000672.2:g.104034201_104034204del GRCh38
NC_000010.10:g.105793959_105793962del , CM000672.1:g.105793959_105793962del GRCh37
NC_000010.9:g.105783949_105783952del NCBI36
NG_007069.1:g.56677_56680del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3651_3654del ENSP00000358748.3:p.Val1219GlyfsTer10
ENST00000648076.2:c.3897_3900del MANE Select ENSP00000497653.1:p.Val1301GlyfsTer10
ENST00000353479.9:c.3897_3900del ENSP00000340937.5:p.Val1301GlyfsTer10
ENST00000369733.7:c.3651_3654del ENSP00000358748.3:p.Val1219GlyfsTer10
NM_000494.3:c.3897_3900del NP_000485.3:p.Val1301GlyfsTer10
NM_000494.4:c.3897_3900del MANE Select NP_000485.3:p.Val1301GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'