Canonical Allele Identifier: CA1933418768
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086258049
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034715_104034741del , CM000672.2:g.104034715_104034741del GRCh38
NC_000010.10:g.105794473_105794499del , CM000672.1:g.105794473_105794499del GRCh37
NC_000010.9:g.105784463_105784489del NCBI36
NG_007069.1:g.56144_56170del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3404_3430del ENSP00000358748.3:p.Pro1135_Pro1143del
ENST00000648076.2:c.3650_3676del MANE Select ENSP00000497653.1:p.Pro1217_Pro1225del
ENST00000353479.9:c.3650_3676del ENSP00000340937.5:p.Pro1217_Pro1225del
ENST00000369733.7:c.3404_3430del ENSP00000358748.3:p.Pro1135_Pro1143del
NM_000494.3:c.3650_3676del NP_000485.3:p.Pro1217_Pro1225del
NM_000494.4:c.3650_3676del MANE Select NP_000485.3:p.Pro1217_Pro1225del
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